Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TTLL10 254173 broad.mit.edu 37 1 1120466 1120466 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:1120466G>C uc001acy.2 + 13 1529 c.1378G>C c.(1378-1380)GAC>CAC p.D460H TTLL10_uc010nyg.1_Missense_Mutation_p.D460H|TTLL10_uc001acz.1_Missense_Mutation_p.D387H NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 460 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity large_intestine(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCTCGCCAAGGACTGGGTCTT 0.632 NaN 0 0 0 0.000978 0 10 20 CHD5 26038 broad.mit.edu 37 1 6206323 6206323 + Missense_Mutation SNP C C T rs141210110 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:6206323C>T uc001amb.1 - 11 1851 c.1751G>A c.(1750-1752)CGC>CAC p.R584H CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 584 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GATGCCATAGCGGTAGAAGCG 0.607 NaN 0 0 0 0.003954 0 22 66 SPEN 23013 broad.mit.edu 37 1 16255003 16255003 + Nonsense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:16255003C>G uc001axk.1 + 11 2472 c.2268C>G c.(2266-2268)TAC>TAG p.Y756* SPEN_uc010obp.1_Nonsense_Mutation_p.Y715* NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 756 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGGCTTTACAGCCGATCCT 0.512 NaN 0 0 0 0.004656 0 27 65 ZBTB8A 653121 broad.mit.edu 37 1 33059171 33059171 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:33059171G>C uc001bvn.2 + 3 1124 c.639G>C c.(637-639)TTG>TTC p.L213F ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.L213F NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCAAACATTTGAGATTGTCAC 0.403 NaN 0 0 0 0.000978 0 12 38 ZSCAN20 7579 broad.mit.edu 37 1 33957212 33957212 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:33957212G>A uc001bxj.3 + 6 1521 c.1354G>A c.(1354-1356)GAA>AAA p.E452K ZSCAN20_uc001bxk.2_Missense_Mutation_p.E398K|ZSCAN20_uc009vui.2_Missense_Mutation_p.E452K NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 452 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGAAATGGCAGAAGACTGTAA 0.577 NaN 0 0 0 0.002445 0 32 55 C1orf94 84970 broad.mit.edu 37 1 34663406 34663406 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:34663406C>T uc001bxs.3 + 2 730 c.331C>T c.(331-333)CCT>TCT p.P111S C1orf94_uc001bxt.2_Missense_Mutation_p.P301S NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 111 protein binding 0 Myeloproliferative disorder(586;0.0393) TCCTGCACGTCCTGACAAGCT 0.612 NaN 0 0 0 0.007413 0 18 40 ARTN 9048 broad.mit.edu 37 1 44402240 44402240 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:44402240C>T uc001cks.2 + 5 1248 c.466C>T c.(466-468)CGC>TGC p.R156C ARTN_uc001ckv.2_Missense_Mutation_p.R164C|ARTN_uc001ckt.2_Missense_Mutation_p.R164C|ARTN_uc001cku.2_Missense_Mutation_p.R156C|ARTN_uc001ckw.2_Missense_Mutation_p.R173C NM_057091 NP_476432 Q5T4W7 ARTN_HUMAN neurotrophic factor artemin isoform 1 precursor 156 axon guidance|neuroblast proliferation|signal transduction extracellular region growth factor activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CTCCTGCCGCCGCGCGCGCTC 0.776 NaN 0 0 0 0.000248 0 4 4 PLK3 1263 broad.mit.edu 37 1 45269884 45269884 + Missense_Mutation SNP T T G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:45269884T>G uc001cmn.2 + 11 1408 c.1308T>G c.(1306-1308)TGT>TGG p.C436W PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 436 membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) CAGCCCTTTGTGCTCTGAGAA 0.552 NaN 0 0 0 0.006122 0 19 35 DNAJC6 9829 broad.mit.edu 37 1 65874363 65874363 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:65874363C>G uc001dcd.1 + 17 2524 c.2360C>G c.(2359-2361)TCT>TGT p.S787C DNAJC6_uc010opc.1_Missense_Mutation_p.S774C|DNAJC6_uc001dce.1_Missense_Mutation_p.S844C NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 787 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 GACCTACTCTCTGGTCAAGGT 0.368 NaN 0 0 0 0.001882 0 21 56 DDAH1 23576 broad.mit.edu 37 1 85816110 85816110 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:85816110C>G uc001dlb.2 - 4 746 c.585G>C c.(583-585)CAG>CAC p.Q195H DDAH1_uc001dlc.2_Missense_Mutation_p.Q92H|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.Q95H|DDAH1_uc009wco.2_Missense_Mutation_p.Q92H NM_012137 NP_036269 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 195 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding 0 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) TAAGGGCCTTCTGTGCAGATT 0.502 NaN 0 0 0 0.00361 0 49 95 RBM15 64783 broad.mit.edu 37 1 110882243 110882243 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:110882243G>A uc001dzl.1 + 1 299 c.216G>A c.(214-216)AAG>AAA p.K72K RBM15_uc001dzm.1_Silent_p.K72K|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 72 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AGCGGAGCAAGAAGTTAGGGG 0.632 NaN T MKL1 acute megakaryocytic leukemia 0 0 0 0.006122 0 17 26 NOTCH2NL 388677 broad.mit.edu 37 1 145281697 145281697 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:145281697C>T uc001emn.3 + 4 997 c.627C>T c.(625-627)TGC>TGT p.C209C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.C209C|NOTCH2NL_uc001emo.2_Silent_p.C209C|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 209 EGF-like 6. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 AGTGCAACTGCCTTCCAGGTA 0.542 NaN 0 0 0 0.006214 0 9 127 FMO5 2330 broad.mit.edu 37 1 146672821 146672821 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:146672821G>C uc001epi.2 - 7 1485 c.1096C>G c.(1096-1098)CTT>GTT p.L366V FMO5_uc001eph.3_Missense_Mutation_p.L366V|FMO5_uc001epj.2_Intron NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 366 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) ATGATTGCAAGAGTTGGCCTT 0.453 NaN 0 0 0 0.00245 0 14 33 FMO5 2330 broad.mit.edu 37 1 146672902 146672902 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:146672902G>C uc001epi.2 - 7 1404 c.1015C>G c.(1015-1017)CTG>GTG p.L339V FMO5_uc001eph.3_Missense_Mutation_p.L339V|FMO5_uc001epj.2_Intron NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 339 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) GAATCTTCCAGAAACGGAAAG 0.448 NaN 0 0 0 0.007413 0 18 51 ACP6 51205 broad.mit.edu 37 1 147124335 147124335 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:147124335G>A uc001epr.2 - 7 1262 c.798C>T c.(796-798)AGC>AGT p.S266S ACP6_uc009wjj.1_3'UTR NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 266 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) GCATGGGGCAGCTTGGGAGGT 0.493 NaN 0 0 0 0.003954 0 23 49 MCL1 4170 broad.mit.edu 37 1 150551448 150551448 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:150551448G>A uc001euz.2 - 1 689 c.559C>T c.(559-561)CGG>TGG p.R187W MCL1_uc010pch.1_Missense_Mutation_p.R77W|MCL1_uc001eva.2_Missense_Mutation_p.R187W NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 187 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCCTGCTCCCGAAGGTACCGA 0.647 NaN 0 0 0 0.003954 0 24 50 TNFAIP8L2 79626 broad.mit.edu 37 1 151131260 151131260 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:151131260C>G uc001ewx.2 + 2 213 c.87C>G c.(85-87)CTC>CTG p.L29L NM_024575 NP_078851 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 29 innate immune response 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGCTCATCTCTTCATAGATG 0.567 NaN 0 0 0 0.004656 0 24 34 HRNR 388697 broad.mit.edu 37 1 152188523 152188523 + Missense_Mutation SNP T T C rs140946102 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:152188523T>C uc001ezt.1 - 3 5658 c.5582A>G c.(5581-5583)CAT>CGT p.H1861R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1861 20. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAGACCCATGTCGGCCACT 0.592 NaN 0 0 0 0.00361 0 46 519 IVL 3713 broad.mit.edu 37 1 152882414 152882414 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:152882414G>A uc001fau.2 + 2 187 c.141G>A c.(139-141)GTG>GTA p.V47V NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 47 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCAGAAGGTGCCTGTCGAGC 0.502 NaN 0 0 0 0.004482 0 7 44 YY1AP1 55249 broad.mit.edu 37 1 155649255 155649255 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:155649255C>T uc001fln.2 - 4 292 c.268G>A c.(268-270)GAG>AAG p.E90K YY1AP1_uc010pgg.1_5'Flank|YY1AP1_uc010pgh.1_Missense_Mutation_p.E13K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E162K|YY1AP1_uc001flh.2_Missense_Mutation_p.E162K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E13K|YY1AP1_uc001flk.2_Missense_Mutation_p.E13K|YY1AP1_uc001fll.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.E13K|YY1AP1_uc001fli.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E13K|YY1AP1_uc001flo.2_5'UTR|YY1AP1_uc001flp.2_Missense_Mutation_p.E24K|YY1AP1_uc010pgj.1_Missense_Mutation_p.E90K|YY1AP1_uc009wqx.2_Missense_Mutation_p.E162K|YY1AP1_uc010pgk.1_Missense_Mutation_p.E162K NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 90 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CGCTCCTCCTCTTCTGGGCCA 0.483 NaN 0 0 0 0.003163 0 16 52 RGL1 23179 broad.mit.edu 37 1 183853949 183853949 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:183853949C>T uc001gqo.2 + 7 985 c.828C>T c.(826-828)ATC>ATT p.I276I RGL1_uc010pof.1_Silent_p.I81I|RGL1_uc001gqm.2_Silent_p.I311I|RGL1_uc010pog.1_Silent_p.I274I|RGL1_uc010poh.1_Silent_p.I274I|RGL1_uc010poi.1_Silent_p.I276I NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 276 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 CTCCTACGATCCGTGCCACCA 0.478 NaN 0 0 0 0.007413 0 19 39 PRG4 10216 broad.mit.edu 37 1 186280724 186280724 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:186280724G>C uc001gru.3 + 10 3840 c.3789G>C c.(3787-3789)AAG>AAC p.K1263N PRG4_uc001grt.3_Missense_Mutation_p.K1222N|PRG4_uc009wyl.2_Missense_Mutation_p.K1170N|PRG4_uc009wym.2_Missense_Mutation_p.K1129N|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 1263 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ATTTTTTCAAGAGAGGTATGT 0.313 NaN 0 0 0 0.003954 0 23 44 PTPRC 5788 broad.mit.edu 37 1 198668734 198668734 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:198668734G>A uc001gur.1 + 5 514 c.334G>A c.(334-336)GAC>AAC p.D112N PTPRC_uc001gus.1_Missense_Mutation_p.D112N|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.D48N|PTPRC_uc009wzf.1_Missense_Mutation_p.D48N|PTPRC_uc010ppg.1_Missense_Mutation_p.D48N|PTPRC_uc001guu.1_Missense_Mutation_p.D155N|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 112 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 CACGCACGCAGACTCGCAGAC 0.527 NaN OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00623 0 40 97 KIF14 9928 broad.mit.edu 37 1 200550392 200550392 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:200550392G>A uc010ppk.1 - 20 3711 c.3272C>T c.(3271-3273)TCA>TTA p.S1091L KIF14_uc010ppj.1_Missense_Mutation_p.S600L NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1091 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 AATCATCATTGAGAGTTTCAT 0.328 NaN 0 0 0 0.00361 0 45 79 PHLDA3 23612 broad.mit.edu 37 1 201437713 201437713 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:201437713C>A uc001gwq.2 - 1 587 c.202G>T c.(202-204)GGG>TGG p.G68W PHLDA3_uc009wzx.2_5'UTR NM_012396 NP_036528 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, 68 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding 0 ATGTGGCGCCCGGTGCTCTCC 0.687 NaN 1 0 0.00307968 0.00308 0.00528666 7 80 PPFIA4 8497 broad.mit.edu 37 1 203015064 203015064 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:203015064C>G uc009xaj.2 + 12 1395 c.1395C>G c.(1393-1395)CTC>CTG p.L465L PPFIA4_uc010pqf.1_Silent_p.L25L O75335 LIPA4_HUMAN SubName: Full=Liprin alpha4; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 TCCATGACCTCAATGACAAGC 0.587 NaN 0 0 0 0.004289 0 37 103 PPP2R5A 5525 broad.mit.edu 37 1 212530372 212530372 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:212530372C>G uc001hjb.2 + 10 1633 c.1059C>G c.(1057-1059)TTC>TTG p.F353L PPP2R5A_uc010ptd.1_Missense_Mutation_p.F294L NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 353 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) AGCCACTTTTCAAGCAGATAT 0.308 NaN 0 0 0 0.00333 0 24 46 TTC13 79573 broad.mit.edu 37 1 231051946 231051946 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:231051946C>T uc001huf.3 - 18 2117 c.2086G>A c.(2086-2088)GGA>AGA p.G696R TTC13_uc009xfi.2_Missense_Mutation_p.G643R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.G642R|TTC13_uc009xfk.1_Missense_Mutation_p.G585R NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 696 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TACTTGTCTCCTGTAATCGTG 0.428 NaN 0 0 0 0.00623 0 39 103 RYR2 6262 broad.mit.edu 37 1 237838043 237838043 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:237838043C>G uc001hyl.1 + 60 8847 c.8727C>G c.(8725-8727)GAC>GAG p.D2909E RYR2_uc010pxz.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2909 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATTTAAGGACCTGGAACTGG 0.378 NaN 0 0 0 0.000602 0 5 19 CHRM3 1131 broad.mit.edu 37 1 240072502 240072502 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:240072502G>A uc001hyp.2 + 5 2530 c.1751G>A c.(1750-1752)CGC>CAC p.R584H NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 584 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TTTCACAAGCGCGCACCCGAG 0.522 NaN 0 0 0 0.001368 0 12 47 PFKFB3 5209 broad.mit.edu 37 10 6258109 6258109 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:6258109G>C uc001ije.2 + 4 705 c.321G>C c.(319-321)TTG>TTC p.L107F PFKFB3_uc001ijd.2_Missense_Mutation_p.L87F|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.L121F|PFKFB3_uc001ijf.2_Missense_Mutation_p.L107F NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 107 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 TAGCTGCCTTGAGAGATGTCA 0.592 NaN 0 0 0 0.005524 0 35 63 APBB1IP 54518 broad.mit.edu 37 10 26800746 26800746 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:26800746G>C uc001iss.2 + 7 923 c.602G>C c.(601-603)CGA>CCA p.R201P APBB1IP_uc009xks.1_Missense_Mutation_p.R201P NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 201 Ras-associating. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CAGCTGGCCCGAGATGTTCTG 0.473 NaN 0 0 0 0.00278 0 22 64 WAC 51322 broad.mit.edu 37 10 28906704 28906704 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:28906704G>A uc001iuf.2 + 13 1950 c.1865G>A c.(1864-1866)CGA>CAA p.R622Q WAC_uc001iud.2_Missense_Mutation_p.R577Q|WAC_uc001iue.2_Missense_Mutation_p.R312Q|WAC_uc001iug.2_Missense_Mutation_p.R519Q|WAC_uc001iuh.2_Missense_Mutation_p.R573Q NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 622 Potential. cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 GCAACTTTGCGAGAGCAAAGG 0.299 NaN 0 0 0 0.00308 0 6 22 ANK3 288 broad.mit.edu 37 10 61829613 61829613 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:61829613C>G uc001jky.2 - 37 11218 c.11026G>C c.(11026-11028)GAG>CAG p.E3676Q ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3676 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GTAGGTGTCTCTACATTTCTC 0.552 NaN 0 0 0 0.00245 0 15 52 ANK3 288 broad.mit.edu 37 10 61959942 61959942 + Missense_Mutation SNP G G T rs138255802 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:61959942G>T uc001jky.2 - 13 1628 c.1436C>A c.(1435-1437)GCT>GAT p.A479D ANK3_uc010qih.1_Missense_Mutation_p.A462D|ANK3_uc001jkz.3_Missense_Mutation_p.A473D|ANK3_uc001jlb.1_Missense_Mutation_p.A8D|ANK3_uc001jlc.1_Missense_Mutation_p.A140D NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 479 ANK 13. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CACAACTTCAGCTTGGCCGGA 0.463 NaN 1 0 8.00594e-06 0.007413 1.42436e-05 16 40 SYNPO2L 79933 broad.mit.edu 37 10 75407393 75407393 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:75407393C>T uc001jut.3 - 4 2169 c.2017G>A c.(2017-2019)GAA>AAA p.E673K SYNPO2L_uc001jus.3_Missense_Mutation_p.E449K NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 673 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) GCATCTTCTTCAGGACCAGAT 0.592 NaN 0 0 0 0.00361 0 44 120 KIAA0913 23053 broad.mit.edu 37 10 75555297 75555297 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:75555297G>A uc009xrl.2 + 15 2926 c.2894G>A c.(2893-2895)GGC>GAC p.G965D KIAA0913_uc001jve.2_Missense_Mutation_p.G970D|KIAA0913_uc001jvf.2_Missense_Mutation_p.G965D|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.G393D|KIAA0913_uc010qkr.1_Missense_Mutation_p.G388D|KIAA0913_uc001jvj.2_Missense_Mutation_p.G388D NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 965 zinc ion binding breast(1) 1 Prostate(51;0.0112) TTTCTCGCAGGCATGAAGACA 0.488 NaN 0 0 0 0.00361 0 42 107 AP3M1 26985 broad.mit.edu 37 10 75886013 75886013 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:75886013C>G uc001jwf.2 - 7 1334 c.904G>C c.(904-906)GGG>CGG p.G302R AP3M1_uc001jwg.2_Missense_Mutation_p.G302R|AP3M1_uc001jwh.2_Missense_Mutation_p.G302R|AP3M1_uc010qla.1_Missense_Mutation_p.G248R NM_207012 NP_996895 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 302 MHD. protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding 0 Prostate(51;0.0112) ATAGTTTTCCCCATATTCTGC 0.403 NaN 0 0 0 0.001882 0 21 73 KCNMA1 3778 broad.mit.edu 37 10 78649235 78649235 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:78649235G>A uc001jxn.2 - 27 3612 c.3435C>T c.(3433-3435)CTC>CTT p.L1145L KCNMA1_uc001jxj.2_Silent_p.L1091L|KCNMA1_uc001jxk.1_Silent_p.L763L|KCNMA1_uc009xrt.1_Silent_p.L936L|KCNMA1_uc001jxl.1_Silent_p.L770L|KCNMA1_uc001jxo.2_Silent_p.L1128L|KCNMA1_uc001jxm.2_Silent_p.L1087L|KCNMA1_uc001jxq.2_Silent_p.L1117L|uc001jxp.2_Intron NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 1145 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TGGGGGTGCTGAGGTGAGCAT 0.443 NaN 0 0 0 0.008871 0 18 54 CYP26C1 340665 broad.mit.edu 37 10 94824180 94824180 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:94824180G>T uc010qns.1 + 4 748 c.748G>T c.(748-750)GCC>TCC p.A250S CYP26C1_uc009xud.2_Intron NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 250 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) CCTGGAGGGGGCCATTTCTGA 0.612 NaN 1 0 5.4927e-09 0.004482 9.99045e-09 8 25 HIF1AN 55662 broad.mit.edu 37 10 102295784 102295784 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:102295784C>T uc001krj.3 + 1 144 c.69C>T c.(67-69)CTC>CTT p.L23L NM_017902 NP_060372 Q9NWT6 HIF1N_HUMAN hypoxia-inducible factor 1, alpha subunit 23 Interaction with VHL. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding 0 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) CTGGAGCCCTCGGCCCCGCCT 0.537 NaN OREG0020442 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 4 SORCS3 22986 broad.mit.edu 37 10 106970924 106970924 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:106970924G>T uc001kyi.1 + 17 2518 c.2291G>T c.(2290-2292)AGC>ATC p.S764I SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 764 Lumenal (Potential). integral to membrane neuropeptide receptor activity p.S764N(1) ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CATGGGGAGAGCCAGTGTGTC 0.443 NaN 1 0 2.61681e-11 0.00245 4.83155e-11 12 22 NRAP 4892 broad.mit.edu 37 10 115349525 115349525 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:115349525C>G uc001laj.2 - 41 5152 c.4988G>C c.(4987-4989)AGA>ACA p.R1663T NRAP_uc009xyb.2_Missense_Mutation_p.R416T|NRAP_uc001lak.2_Missense_Mutation_p.R1628T|NRAP_uc001lal.3_Missense_Mutation_p.R1663T NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1663 Nebulin 44. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCCAACACCTCTGGTCAGGTT 0.542 NaN 0 0 0 0.001786 0 30 58 DMBT1 1755 broad.mit.edu 37 10 124392811 124392811 + Missense_Mutation SNP G G C rs112645522 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:124392811G>C uc001lgk.1 + 49 6221 c.6115G>C c.(6115-6117)GAG>CAG p.E2039Q DMBT1_uc001lgl.1_Missense_Mutation_p.E2029Q|DMBT1_uc001lgm.1_Missense_Mutation_p.E1411Q|DMBT1_uc009xzz.1_Missense_Mutation_p.E2038Q|DMBT1_uc010qtx.1_Missense_Mutation_p.E759Q|DMBT1_uc009yab.1_Missense_Mutation_p.E742Q|DMBT1_uc009yac.1_Missense_Mutation_p.E333Q NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2039 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTGGGACATTGAGGTGCAAAA 0.512 NaN 0 0 0 0.005443 0 25 55 DOCK1 1793 broad.mit.edu 37 10 128798508 128798508 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:128798508G>A uc001ljt.2 + 10 986 c.922G>A c.(922-924)GAG>AAG p.E308K DOCK1_uc010qun.1_Missense_Mutation_p.E308K NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 308 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GGGTCGCATGGAGCTGAGGGA 0.453 NaN 0 0 0 0.000978 0 11 37 ZNF511 118472 broad.mit.edu 37 10 135125328 135125328 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr10:135125328G>T uc001lml.1 + 5 688 c.663G>T c.(661-663)AGG>AGT p.R221S TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Missense_Mutation_p.R221S|ZNF511_uc001lmk.1_3'UTR|ZNF511_uc001lmm.1_RNA Q8NB15 ZN511_HUMAN SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d; 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) CAGGTGAGAGGCGGATCTACA 0.602 NaN 1 0 0.000132079 0.008871 0.000230509 19 72 HRAS 3265 broad.mit.edu 37 11 534288 534288 + Missense_Mutation SNP C C T rs104894230 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:534288C>T uc001lpv.2 - 2 223 c.35G>A c.(34-36)GGC>GAC p.G12D HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 12 GTP. G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GCCCACACCGCCGGCGCCCAC 0.647 G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST) 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 0 0 0 0.006214 0 8 30 LRDD 55367 broad.mit.edu 37 11 802583 802583 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:802583G>T uc001lro.1 - 5 1076 c.934C>A c.(934-936)CCA>ACA p.P312T LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.P312T|LRDD_uc001lrl.1_Missense_Mutation_p.P166T|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Missense_Mutation_p.P166T|LRDD_uc001lrp.1_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 312 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCATTTCTGGAATGAGGGCT 0.587 NaN 1 0 2.56e-06 0.000248 4.56564e-06 4 11 TRIM21 6737 broad.mit.edu 37 11 4411526 4411526 + Missense_Mutation SNP T T A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:4411526T>A uc001lyy.1 - 2 227 c.114A>T c.(112-114)GAA>GAT p.E38D NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 38 RING-type. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GAGAGATGCATTCCTGGCAGA 0.587 NaN 0 0 0 0.00623 0 37 66 OR52L1 338751 broad.mit.edu 37 11 6008147 6008147 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:6008147G>C uc001mcd.2 - 1 69 c.14C>G c.(13-15)TCT>TGT p.S5C NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGAAAAAAGAAACCAAAGT 0.423 NaN 0 0 0 0.00499 0 16 41 OR2D3 120775 broad.mit.edu 37 11 6943194 6943194 + Missense_Mutation SNP T T C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:6943194T>C uc010rav.1 + 1 962 c.962T>C c.(961-963)GTT>GCT p.V321A NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 321 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGGAAACTAGTTGGGAGAAAG 0.398 NaN 0 0 0 0.001855 0 14 30 E2F8 79733 broad.mit.edu 37 11 19256582 19256582 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:19256582C>T uc001mpm.2 - 5 997 c.475G>A c.(475-477)GAT>AAT p.D159N E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.D159N NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 159 Potential. cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TTCACGATATCGTAAATGCGT 0.423 NaN 0 0 0 0.008291 0 9 21 COMMD9 29099 broad.mit.edu 37 11 36297787 36297787 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:36297787G>C uc001mwn.3 - 5 393 c.356C>G c.(355-357)TCT>TGT p.S119C COMMD9_uc009ykj.2_Missense_Mutation_p.S77C|COMMD9_uc009yki.1_5'Flank NM_014186 NP_054905 Q9P000 COMD9_HUMAN COMM domain containing 9 isoform 1 119 ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) GCGTGGCAGAGAGACTGTGGA 0.557 NaN 0 0 0 0.001855 0 12 32 TNKS1BP1 85456 broad.mit.edu 37 11 57075938 57075938 + Nonsense_Mutation SNP G G T rs141792675 byFrequency TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:57075938G>T uc001njr.2 - 5 4559 c.4247C>A c.(4246-4248)TCG>TAG p.S1416* TNKS1BP1_uc001njs.2_Nonsense_Mutation_p.S1416*|TNKS1BP1_uc009ymd.1_Nonsense_Mutation_p.S867* NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1416 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) CAAGGAAGACGAGGAGTAATC 0.607 NaN 1 0 3.1745e-13 0.008361 5.90585e-13 32 219 OR5A1 219982 broad.mit.edu 37 11 59211229 59211229 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:59211229C>T uc001nnx.1 + 1 588 c.588C>T c.(586-588)TTC>TTT p.F196F NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CTGACACCTTCCTCAGTCAAG 0.512 NaN 0 0 0 0.00361 0 66 142 OR5A1 219982 broad.mit.edu 37 11 59211279 59211279 + Nonsense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:59211279C>A uc001nnx.1 + 1 638 c.638C>A c.(637-639)TCG>TAG p.S213* NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 GGAGGAACATCGTTCCTCCAA 0.542 NaN 1 0 4.00472e-15 0.00361 7.50757e-15 47 98 GANAB 23193 broad.mit.edu 37 11 62396347 62396347 + Nonsense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:62396347G>A uc001nub.2 - 17 2107 c.2074C>T c.(2074-2076)CAG>TAG p.Q692* GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Nonsense_Mutation_p.Q714*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q595*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q600*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q578* NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 692 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 TCATTGTGCTGAGATGGTAAC 0.547 NaN 0 0 0 0.006999 0 40 101 NPAS4 266743 broad.mit.edu 37 11 66192075 66192075 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:66192075G>A uc001ohx.1 + 7 1890 c.1714G>A c.(1714-1716)GAG>AAG p.E572K NPAS4_uc010rpc.1_Missense_Mutation_p.E362K NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 572 transcription, DNA-dependent DNA binding|signal transducer activity 0 TTTTCTCTATGAGAAGTTGCC 0.602 NaN 0 0 0 0.005524 0 35 115 RBM14 10432 broad.mit.edu 37 11 66384516 66384516 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:66384516G>C uc001oit.2 + 1 464 c.325G>C c.(325-327)GAC>CAC p.D109H RBM14_uc009yrh.2_Missense_Mutation_p.D109H|RBM14_uc009yri.2_Missense_Mutation_p.D109H|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.D109H NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 109 RRM 2. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 CATCGAGTGTGACGTGGTGAA 0.652 NaN 0 0 0 0.006122 0 16 43 TBC1D10C 374403 broad.mit.edu 37 11 67173129 67173129 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:67173129C>G uc001ola.2 + 5 453 c.424C>G c.(424-426)CAA>GAA p.Q142E PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Missense_Mutation_p.Q142E|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 142 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTGCACCGTCAATTCCCTCT 0.647 NaN 0 0 0 0.00499 0 16 41 GSTP1 2950 broad.mit.edu 37 11 67353675 67353675 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:67353675G>T uc001omf.2 + 6 686 c.437G>T c.(436-438)GGA>GTA p.G146V GSTP1_uc001omg.1_Missense_Mutation_p.G127V NM_000852 NP_000843 P09211 GSTP1_HUMAN glutathione transferase 146 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding ovary(1) 1 Ethacrynic acid(DB00903)|Glutathione(DB00143) TTCATTGTGGGAGACCAGGTG 0.567 NaN 1 0 2.17888e-05 0.006214 3.83922e-05 9 16 SERPINH1 871 broad.mit.edu 37 11 75277666 75277666 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:75277666C>T uc001owr.2 + 2 501 c.272C>T c.(271-273)TCG>TTG p.S91L SERPINH1_uc009yuf.2_Missense_Mutation_p.S91L|SERPINH1_uc009yug.2_Missense_Mutation_p.S91L|SERPINH1_uc001ows.2_Missense_Mutation_p.S91L|SERPINH1_uc001owt.2_5'Flank NM_001235 NP_001226 P50454 SERPH_HUMAN serine (or cysteine) proteinase inhibitor, clade 91 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity ovary(2) 2 Ovarian(111;0.11) ACCACGGCGTCGCAGGCCAAG 0.701 NaN 0 0 0 0.001168 0 6 19 DLG2 1740 broad.mit.edu 37 11 83641425 83641425 + Nonsense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:83641425G>C uc001paj.2 - 10 1430 c.1127C>G c.(1126-1128)TCA>TGA p.S376* DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Nonsense_Mutation_p.S343*|DLG2_uc010rsz.1_Nonsense_Mutation_p.S376*|DLG2_uc010rta.1_Nonsense_Mutation_p.S376*|DLG2_uc001pak.2_Nonsense_Mutation_p.S481*|DLG2_uc010rtb.1_Nonsense_Mutation_p.S343*|DLG2_uc001pal.1_Nonsense_Mutation_p.S376*|DLG2_uc001pam.1_Nonsense_Mutation_p.S415* NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 376 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ATAGGGAGCTGAGAGGAGGAA 0.512 NaN 0 0 0 0.001882 0 19 51 TYR 7299 broad.mit.edu 37 11 89028453 89028453 + Silent SNP G G A rs138750983 byFrequency TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:89028453G>A uc001pcs.2 + 5 1591 c.1509G>A c.(1507-1509)AAG>AAA p.K503K NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 503 Cytoplasmic (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GTCGTCACAAGAGAAAGCAGC 0.532 NaN Oculocutaneous_Albinism 0 0 0 0.004482 0 8 26 DYNC2H1 79659 broad.mit.edu 37 11 103041631 103041631 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:103041631C>T uc001pho.2 + 34 5312 c.5168C>T c.(5167-5169)TCA>TTA p.S1723L DYNC2H1_uc001phn.1_Missense_Mutation_p.S1723L|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1723 AAA 1 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GATGTGAAGTCAATGGGACGA 0.299 NaN 0 0 0 0.001984 0 7 20 DDI1 414301 broad.mit.edu 37 11 103908506 103908506 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:103908506C>G uc001phr.2 + 1 1199 c.956C>G c.(955-957)TCC>TGC p.S319C PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 319 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGCTCTTTCTCCATACTTGAG 0.453 NaN 0 0 0 0.002836 0 33 86 CADM1 23705 broad.mit.edu 37 11 115085457 115085457 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:115085457G>C uc001ppi.3 - 7 994 c.865C>G c.(865-867)CAA>GAA p.Q289E CADM1_uc001ppf.3_Missense_Mutation_p.Q289E|CADM1_uc001ppk.3_Missense_Mutation_p.Q289E|CADM1_uc001ppj.3_Missense_Mutation_p.Q289E|CADM1_uc001ppl.2_Missense_Mutation_p.Q289E|CADM1_uc001pph.3_Missense_Mutation_p.Q41E NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 289 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) ACGGCGTGTTGAGGCATTTCA 0.473 NaN 0 0 0 0.002836 0 28 71 CD3E 916 broad.mit.edu 37 11 118185207 118185207 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:118185207G>C uc001psq.3 + 8 821 c.565G>C c.(565-567)GAG>CAG p.E189Q NM_000733 NP_000724 P07766 CD3E_HUMAN CD3E antigen, epsilon polypeptide precursor 189 Cytoplasmic (Potential).|ITAM. G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway external side of plasma membrane|integral to plasma membrane protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity ovary(2) 2 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) CCCAGACTATGAGGTAACGTG 0.557 NaN 0 0 0 0.004482 0 9 14 ABCG4 64137 broad.mit.edu 37 11 119029009 119029009 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:119029009C>G uc001pvs.2 + 10 1470 c.1134C>G c.(1132-1134)TTC>TTG p.F378L ABCG4_uc009zar.2_Missense_Mutation_p.F378L NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 378 Cytoplasmic (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCATCCTCTTCAAGAGGACCT 0.577 NaN 0 0 0 0.00361 0 94 183 TECTA 7007 broad.mit.edu 37 11 120980049 120980049 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:120980049G>C uc010rzo.1 + 3 328 c.328G>C c.(328-330)GAG>CAG p.E110Q NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 110 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AATTCGAGGCGAGATCTATTA 0.512 NaN 0 0 0 0.001786 0 28 58 OR8B4 283162 broad.mit.edu 37 11 124294715 124294715 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:124294715G>A uc010sak.1 - 1 53 c.53C>T c.(52-54)TCA>TTA p.S18L NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGGCTGTTCTGATAATCCCAC 0.478 NaN 0 0 0 0.00499 0 17 36 SIAE 54414 broad.mit.edu 37 11 124524628 124524628 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:124524628G>A uc001qan.2 - 4 580 c.467C>T c.(466-468)TCT>TTT p.S156F NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 156 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) GGGAGAGACAGAGAGGATGCG 0.488 NaN 0 0 0 0.00361 0 50 114 ROBO4 54538 broad.mit.edu 37 11 124766183 124766183 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:124766183G>A uc001qbg.2 - 4 730 c.590C>T c.(589-591)GCA>GTA p.A197V ROBO4_uc010sas.1_Missense_Mutation_p.A52V|ROBO4_uc001qbh.2_Missense_Mutation_p.A87V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 197 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACTCTTCTCTGCTCTTGCCAT 0.617 NaN 0 0 0 0.002299 0 21 52 NTM 50863 broad.mit.edu 37 11 132082042 132082042 + Splice_Site SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr11:132082042G>A uc001qgp.2 + 3 1190 c.526_splice c.e3+1 p.A176_splice NTM_uc001qgm.2_Splice_Site_p.A176_splice|NTM_uc010sch.1_Splice_Site_p.A167_splice|NTM_uc010sci.1_Splice_Site_p.A176_splice|NTM_uc010scj.1_Splice_Site_p.A135_splice|NTM_uc001qgo.2_Splice_Site_p.A176_splice|NTM_uc001qgq.2_Splice_Site_p.A176_splice|NTM_uc001qgr.2_Splice_Site NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 TCTCCCAAAGGTAAGAGAACA 0.453 NaN 0 0 0 0.005524 0 35 89 KCNA1 3736 broad.mit.edu 37 12 5021124 5021124 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:5021124G>A uc001qnh.2 + 2 1685 c.580G>A c.(580-582)GAT>AAT p.D194N NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 194 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGAGCTGAAGGATGACAAGGA 0.572 NaN 0 0 0 0.00499 0 18 30 CHD4 1108 broad.mit.edu 37 12 6690875 6690875 + Missense_Mutation SNP G G C rs143753094 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:6690875G>C uc001qpo.2 - 31 4785 c.4621C>G c.(4621-4623)CCT>GCT p.P1541A CHD4_uc001qpn.2_Missense_Mutation_p.P1534A|CHD4_uc001qpp.2_Missense_Mutation_p.P1566A|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1541 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GAGGGTGTAGGAGTTTTTGGG 0.547 NaN 0 0 0 0.008871 0 19 66 CHD4 1108 broad.mit.edu 37 12 6692427 6692427 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:6692427G>C uc001qpo.2 - 26 4161 c.3997C>G c.(3997-3999)CTG>GTG p.L1333V CHD4_uc001qpn.2_Missense_Mutation_p.L1326V|CHD4_uc001qpp.2_Missense_Mutation_p.L1330V|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1333 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCTTTGCCCAGATTTCGGGCT 0.537 NaN 0 0 0 0.00361 0 89 171 KIAA1467 57613 broad.mit.edu 37 12 13219676 13219676 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:13219676G>A uc001rbi.2 + 6 978 c.955G>A c.(955-957)GTT>ATT p.V319I KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 319 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TGGTCCTCAGGTTTACATCAC 0.502 NaN 0 0 0 0.001368 0 12 42 GUCY2C 2984 broad.mit.edu 37 12 14840914 14840914 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:14840914C>T uc001rcd.2 - 2 438 c.301G>A c.(301-303)GAA>AAA p.E101K GUCY2C_uc009zhz.2_Missense_Mutation_p.E101K NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 101 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TCGAGGCCTTCACAGGTGCTA 0.488 NaN 0 0 0 0.00632 0 25 76 C12orf72 254013 broad.mit.edu 37 12 31819050 31819050 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:31819050G>A uc009zjr.2 + 3 553 c.344G>A c.(343-345)AGA>AAA p.R115K C12orf72_uc001rkl.2_Missense_Mutation_p.R115K|C12orf72_uc001rkm.2_Missense_Mutation_p.R115K NM_001135864 NP_001129336 Q8IXQ9 MET20_HUMAN hypothetical protein LOC254013 115 cytoplasm protein methyltransferase activity 0 GATGTTGTCAGAGGAAAATCT 0.353 NaN 0 0 0 0.001855 0 14 31 LRRK2 120892 broad.mit.edu 37 12 40716180 40716180 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:40716180C>T uc001rmg.3 + 37 5498 c.5377C>T c.(5377-5379)CCT>TCT p.P1793S LRRK2_uc009zjw.2_Missense_Mutation_p.P631S|LRRK2_uc001rmi.2_Missense_Mutation_p.P626S NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1793 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGAATGGTTTCCTGGGTTGCT 0.383 NaN 0 0 0 0.002222 0 40 109 ADAMTS20 80070 broad.mit.edu 37 12 43925874 43925874 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:43925874G>A uc010skx.1 - 3 578 c.578C>T c.(577-579)TCT>TTT p.S193F NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 193 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGCAGAAAAGAGTTATTTAA 0.328 NaN 0 0 0 0.001855 0 14 23 KRT8 3856 broad.mit.edu 37 12 53298670 53298670 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:53298670G>A uc001sbd.2 - 1 199 c.96C>T c.(94-96)CGC>CGT p.R32R KRT8_uc009zmj.2_Silent_p.R32R|KRT8_uc009zmk.1_Silent_p.R60R|KRT8_uc009zml.1_Silent_p.R32R|KRT8_uc009zmm.1_Silent_p.R32R NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 32 Head.|Ser-rich. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGAGCTGATGCGGGAACCGG 0.667 NaN 0 0 0 0.008291 0 11 13 TMEM194A 23306 broad.mit.edu 37 12 57453736 57453736 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:57453736C>T uc001smy.2 - 9 1307 c.1261G>A c.(1261-1263)GAG>AAG p.E421K TMEM194A_uc001smx.2_Missense_Mutation_p.E348K|TMEM194A_uc010sra.1_Missense_Mutation_p.E162K NM_001130963 NP_001124435 O14524 T194A_HUMAN transmembrane protein 194A isoform a 421 integral to membrane 0 GATGCTTCCTCATAGATTTCA 0.463 NaN 0 0 0 0.001368 0 13 33 TMEM194A 23306 broad.mit.edu 37 12 57453784 57453784 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:57453784C>T uc001smy.2 - 9 1259 c.1213G>A c.(1213-1215)GAG>AAG p.E405K TMEM194A_uc001smx.2_Missense_Mutation_p.E332K|TMEM194A_uc010sra.1_Missense_Mutation_p.E146K NM_001130963 NP_001124435 O14524 T194A_HUMAN transmembrane protein 194A isoform a 405 integral to membrane 0 TACTCCTGCTCATGGACAGAA 0.448 NaN 0 0 0 0.003163 0 15 46 GLI1 2735 broad.mit.edu 37 12 57865455 57865455 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:57865455G>C uc001snx.2 + 12 3010 c.2932G>C c.(2932-2934)GCA>CCA p.A978P GLI1_uc009zpq.2_Missense_Mutation_p.A850P NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 978 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) TGTAGTGGGGGCAAATAGGGC 0.537 NaN 0 0 0 0.003271 0 34 62 ARHGAP9 64333 broad.mit.edu 37 12 57871349 57871349 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:57871349C>G uc001sod.2 - 7 1055 c.862G>C c.(862-864)GAT>CAT p.D288H ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.D33H|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.D217H|ARHGAP9_uc001soc.2_Missense_Mutation_p.D217H|ARHGAP9_uc001soe.1_Missense_Mutation_p.D296H|ARHGAP9_uc010sro.1_Missense_Mutation_p.D217H NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 217 WW. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) TCCCAGGCATCCAGCCTCTGC 0.642 NaN 0 0 0 0.001882 0 20 52 LRRIQ1 84125 broad.mit.edu 37 12 85438530 85438530 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:85438530G>A uc001tac.2 + 4 390 c.279G>A c.(277-279)ATG>ATA p.M93I LRRIQ1_uc001tab.1_Missense_Mutation_p.M93I|LRRIQ1_uc001taa.1_Missense_Mutation_p.M93I|LRRIQ1_uc001tad.2_Missense_Mutation_p.M1I NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 93 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ATAATCATATGCATTTAAGAA 0.259 NaN 0 0 0 0.008291 0 9 30 UBE3B 89910 broad.mit.edu 37 12 109927779 109927779 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:109927779C>G uc001top.2 + 8 1203 c.600C>G c.(598-600)CTC>CTG p.L200L UBE3B_uc001toq.2_Silent_p.L200L|UBE3B_uc001tol.1_Silent_p.L200L|UBE3B_uc001tom.2_Silent_p.L200L|UBE3B_uc001ton.2_Silent_p.L200L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L200L|UBE3B_uc001tor.2_Silent_p.L200L NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 200 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TGGGACATCTCAACCAGCATG 0.428 NaN 0 0 0 0.001786 0 27 79 UBE3B 89910 broad.mit.edu 37 12 109928922 109928922 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:109928922C>G uc001top.2 + 9 1306 c.703C>G c.(703-705)CTA>GTA p.L235V UBE3B_uc001toq.2_Missense_Mutation_p.L235V|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.L235V NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 235 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 AGCTTTTTCTCTAGCGTTACG 0.428 NaN 0 0 0 0.004656 0 19 35 UBE3B 89910 broad.mit.edu 37 12 109937445 109937445 + Silent SNP C C G rs150323950 by1000genomes TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:109937445C>G uc001top.2 + 12 1551 c.948C>G c.(946-948)CTC>CTG p.L316L UBE3B_uc001toq.2_Silent_p.L316L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L316L NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 316 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TAGGCAACCTCCTACACTTGG 0.582 NaN 0 0 0 0.001168 0 6 12 UBE3B 89910 broad.mit.edu 37 12 109939251 109939251 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:109939251C>A uc001top.2 + 13 1797 c.1194C>A c.(1192-1194)TTC>TTA p.F398L UBE3B_uc001toq.2_Missense_Mutation_p.F398L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.F398L NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 398 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GGATCTTCTTCTGTGACATCC 0.562 NaN 1 0 2.91434e-09 0.004878 5.31395e-09 37 88 UBE3B 89910 broad.mit.edu 37 12 109961811 109961811 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:109961811C>G uc001top.2 + 22 2996 c.2393C>G c.(2392-2394)TCC>TGC p.S798C UBE3B_uc001toq.2_Missense_Mutation_p.S798C|UBE3B_uc001tos.2_Missense_Mutation_p.S225C|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S798C NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 798 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CCATTTGCATCCTTCTTCCTG 0.532 NaN 0 0 0 0.008361 0 28 101 DYNLL1 8655 broad.mit.edu 37 12 120935923 120935923 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:120935923G>C uc001tyj.2 + 3 434 c.180G>C c.(178-180)AGG>AGC p.R60S uc001tyk.1_5'Flank|DYNLL1_uc001tyl.2_Missense_Mutation_p.R60S|DYNLL1_uc001tym.2_Missense_Mutation_p.R60S NM_001037494 NP_001032583 P63167 DYL1_HUMAN dynein light chain 1 60 actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane motor activity|protein binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCGTGGGGAGGAACTTCGGTA 0.418 NaN 0 0 0 0.006214 0 8 29 ZNF664 144348 broad.mit.edu 37 12 124496822 124496822 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:124496822C>T uc001ufz.2 + 6 1961 c.131C>T c.(130-132)TCA>TTA p.S44L ZNF664_uc001uga.2_Missense_Mutation_p.S44L|ZNF664_uc001ugb.2_Missense_Mutation_p.S44L NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 44 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) TTTCATATATCAGAACTTCAT 0.353 NaN 0 0 0 0.00278 0 22 86 TMEM132B 114795 broad.mit.edu 37 12 125834167 125834167 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr12:125834167C>T uc001uhe.1 + 2 230 c.222C>T c.(220-222)TTC>TTT p.F74F NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 74 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCCATTCTTCATCTACCGAG 0.512 NaN 0 0 0 0.00361 0 48 97 IFT88 8100 broad.mit.edu 37 13 21175890 21175890 + Nonsense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:21175890C>T uc001unh.2 + 14 1282 c.886C>T c.(886-888)CAG>TAG p.Q296* IFT88_uc001uni.2_Nonsense_Mutation_p.Q287*|IFT88_uc001unj.2_Nonsense_Mutation_p.Q286*|IFT88_uc010tcq.1_Nonsense_Mutation_p.Q267*|IFT88_uc001unk.2_Intron NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 296 TPR 3. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TCAGGCTGGTCAGTATTCAGA 0.338 NaN 0 0 0 0.001855 0 13 52 MTUS2 23281 broad.mit.edu 37 13 29599309 29599309 + Silent SNP T T C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:29599309T>C uc001usl.3 + 1 562 c.504T>C c.(502-504)GTT>GTC p.V168V NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 158 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CCCGGCATGTTCCCAAGGATA 0.507 NaN 0 0 0 0.005443 0 26 59 NHLRC3 387921 broad.mit.edu 37 13 39621205 39621205 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:39621205G>C uc001uxc.2 + 6 1029 c.707G>C c.(706-708)AGA>ACA p.R236T NHLRC3_uc001uxd.2_Missense_Mutation_p.R169T|NHLRC3_uc001uxe.2_Missense_Mutation_p.R39T NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 236 NHL 3. extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) GGAAATAAAAGAATCCAAGTA 0.358 NaN 0 0 0 0.001523 0 20 40 PCDH8 5100 broad.mit.edu 37 13 53422431 53422431 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:53422431C>T uc001vhi.2 - 1 344 c.141G>A c.(139-141)GGG>GGA p.G47G PCDH8_uc001vhj.2_Silent_p.G47G NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 47 Extracellular (Potential).|Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGGCCAGGGTCCCGATGACCG 0.602 NaN 0 0 0 0.00333 0 24 85 GPC5 2262 broad.mit.edu 37 13 92560309 92560309 + Nonsense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:92560309C>T uc010tif.1 + 6 1765 c.1399C>T c.(1399-1401)CAG>TAG p.Q467* NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 467 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GCATGTTGTTCAGGTAAGTCC 0.313 NaN 0 0 0 0.00308 0 7 14 GPC6 10082 broad.mit.edu 37 13 93879779 93879779 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:93879779G>A uc001vlt.2 + 1 702 c.70G>A c.(70-72)GAT>AAT p.D24N GPC6_uc010tig.1_Missense_Mutation_p.D24N NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 24 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CGCCGGGGCGGATGTGAAGGC 0.632 NaN OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000978 0 12 41 UGGT2 55757 broad.mit.edu 37 13 96506627 96506627 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:96506627G>T uc001vmt.2 - 35 4281 c.4111C>A c.(4111-4113)CGT>AGT p.R1371S UGGT2_uc001vms.2_Missense_Mutation_p.R91S NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 1371 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TTCCAGAAACGATATCCATCC 0.393 NaN 1 0 0.000442599 0.006214 0.000766963 9 31 ZNF828 283489 broad.mit.edu 37 13 115090045 115090045 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr13:115090045C>T uc010ahb.2 + 3 1057 c.728C>T c.(727-729)TCA>TTA p.S243L ZNF828_uc001vuv.2_Missense_Mutation_p.S243L|ZNF828_uc010tko.1_Missense_Mutation_p.S243L NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 243 Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) CCTTCAGCCTCATCTCCAGAG 0.552 NaN 0 0 0 0.00623 0 40 67 OR4M1 441670 broad.mit.edu 37 14 20248955 20248955 + Silent SNP A A T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:20248955A>T uc010tku.1 + 1 474 c.474A>T c.(472-474)ATA>ATT p.I158I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTCTATAATACAGGTGGCTC 0.502 NaN 0 0 0 0.006999 0 38 292 TGM1 7051 broad.mit.edu 37 14 24729739 24729739 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:24729739C>A uc001wod.2 - 4 798 c.674G>T c.(673-675)CGC>CTC p.R225L TGM1_uc010tog.1_Intron NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 225 R -> P (in ARCI-TGM1).|R -> H (in ARCI-TGM1). cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGATTGTGTGCGGACTGTGAA 0.587 NaN 1 0 1.2644e-06 0.001523 2.26604e-06 20 64 FANCM 57697 broad.mit.edu 37 14 45642298 45642298 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:45642298C>G uc001wwd.3 + 13 2300 c.2201C>G c.(2200-2202)TCT>TGT p.S734C FANCM_uc010anf.2_Missense_Mutation_p.S708C|FANCM_uc001wwe.3_Missense_Mutation_p.S270C|FANCM_uc010ang.2_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 734 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CTCTCTCTCTCTGAATGGAGA 0.363 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.002299 0 22 42 PYGL 5836 broad.mit.edu 37 14 51378884 51378884 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:51378884C>T uc001wyu.2 - 14 1885 c.1758G>A c.(1756-1758)ACG>ACA p.T586T PYGL_uc010tqq.1_Silent_p.T552T|PYGL_uc001wyv.2_Silent_p.T260T NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 586 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) GGTTGTACATCGTGATCACAT 0.512 NaN 0 0 0 0.001786 0 32 95 KCNH5 27133 broad.mit.edu 37 14 63447854 63447854 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:63447854G>C uc001xfx.2 - 6 729 c.678C>G c.(676-678)TTC>TTG p.F226L KCNH5_uc001xfy.2_Missense_Mutation_p.F226L|KCNH5_uc001xfz.1_Missense_Mutation_p.F168L|KCNH5_uc001xga.2_Missense_Mutation_p.F168L NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 226 Helical; Name=Segment S1; (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGGCGGTGTAGAAGGTAAGAA 0.388 NaN 0 0 0 0.007291 0 26 29 SYNE2 23224 broad.mit.edu 37 14 64588835 64588835 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:64588835C>G uc001xgm.2 + 69 13494 c.13264C>G c.(13264-13266)CAG>GAG p.Q4422E SYNE2_uc001xgl.2_Missense_Mutation_p.Q4422E|SYNE2_uc010apy.2_Missense_Mutation_p.Q807E|SYNE2_uc010apz.1_Missense_Mutation_p.Q314E NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4422 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CGATACAACTCAGGAATCATC 0.328 NaN 0 0 0 0.006999 0 39 56 ACTN1 87 broad.mit.edu 37 14 69387726 69387726 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:69387726C>T uc001xkl.2 - 3 647 c.337G>A c.(337-339)GAA>AAA p.E113K ACTN1_uc010ttb.1_Missense_Mutation_p.E48K|ACTN1_uc001xkm.2_Missense_Mutation_p.E113K|ACTN1_uc001xkn.2_Missense_Mutation_p.E113K|ACTN1_uc001xko.1_Missense_Mutation_p.E48K|ACTN1_uc010ttd.1_Missense_Mutation_p.E92K NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 113 CH 1.|Actin-binding. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GCCTTACCTTCGGCTCCGATG 0.557 NaN 0 0 0 0.008361 0 28 99 ANGEL1 23357 broad.mit.edu 37 14 77273020 77273020 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:77273020G>A uc001xsv.2 - 5 1232 c.1119C>T c.(1117-1119)CTC>CTT p.L373L ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 373 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CTTCTGGGACGAGTGGTTGCA 0.577 NaN 0 0 0 0.00361 0 62 72 SERPINA4 5267 broad.mit.edu 37 14 95033521 95033521 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:95033521G>C uc001ydk.2 + 3 930 c.864G>C c.(862-864)GAG>GAC p.E288D SERPINA4_uc010avd.2_Missense_Mutation_p.E325D|SERPINA4_uc001ydl.2_Missense_Mutation_p.E288D NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 288 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) AAATGAGGGAGATTGAAGAGG 0.468 NaN 0 0 0 0.003163 0 15 27 CLMN 79789 broad.mit.edu 37 14 95669499 95669499 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr14:95669499G>A uc001yef.2 - 9 2303 c.2187C>T c.(2185-2187)TTC>TTT p.F729F NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 729 integral to membrane actin binding 0 Epithelial(152;0.193) CATAGTGTGGGAAATAGAAGA 0.522 NaN 0 0 0 0.006122 0 18 42 CTDSPL2 51496 broad.mit.edu 37 15 44788618 44788618 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:44788618G>A uc001ztr.2 + 6 1148 c.732G>A c.(730-732)GCG>GCA p.A244A CTDSPL2_uc001zts.2_Silent_p.A244A|CTDSPL2_uc001ztt.2_Silent_p.A244A|CTDSPL2_uc010bdv.2_Silent_p.A172A NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 244 phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) CAGCCCACGCGGAGGCCACCT 0.363 NaN 0 0 0 0.003163 0 14 34 ATP8B4 79895 broad.mit.edu 37 15 50152596 50152596 + Nonsense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:50152596G>C uc001zxu.2 - 28 3516 c.3374C>G c.(3373-3375)TCA>TGA p.S1125* ATP8B4_uc010ber.2_Nonsense_Mutation_p.S998*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.S935*|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Nonsense_Mutation_p.S128* NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1125 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGACCTTCTTGAGCTTGACCT 0.522 NaN 0 0 0 0.001523 0 21 55 ATP8B4 79895 broad.mit.edu 37 15 50189570 50189570 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:50189570G>C uc001zxu.2 - 23 2758 c.2616C>G c.(2614-2616)TTC>TTG p.F872L ATP8B4_uc010ber.2_Missense_Mutation_p.F745L|ATP8B4_uc010ufd.1_Missense_Mutation_p.F682L|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.F170L NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 872 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AATAGCATAAGAATTTGCACA 0.378 NaN 0 0 0 0.00361 0 68 140 HDC 3067 broad.mit.edu 37 15 50535004 50535004 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:50535004G>A uc001zxz.2 - 12 1548 c.1442C>T c.(1441-1443)TCC>TTC p.S481F HDC_uc001zxy.2_Missense_Mutation_p.S224F|HDC_uc010uff.1_Missense_Mutation_p.S448F NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 481 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GCTGGGTTGGGAAGTACAGTG 0.552 NaN 0 0 0 0.001368 0 13 31 IGDCC3 9543 broad.mit.edu 37 15 65667594 65667594 + Nonsense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:65667594C>A uc002aos.2 - 2 502 c.250G>T c.(250-252)GAG>TAG p.E84* NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 84 Extracellular (Potential).|Ig-like C2-type 1. ovary(3) 3 TGGGTACTCTCTGGCAGCTCT 0.602 NaN 1 0 1.04858e-14 0.006214 1.96073e-14 9 23 KIF23 9493 broad.mit.edu 37 15 69728485 69728485 + Missense_Mutation SNP G G A rs149564859 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:69728485G>A uc002asb.2 + 13 1398 c.1281G>A c.(1279-1281)ATG>ATA p.M427I KIF23_uc002asc.2_Missense_Mutation_p.M427I|KIF23_uc010bii.2_Missense_Mutation_p.M317I|KIF23_uc010ukc.1_Missense_Mutation_p.M244I|KIF23_uc010bih.1_RNA NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 427 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 AGCAAGTCATGAGATTTGCGG 0.368 NaN 0 0 0 0.00499 0 15 44 THSD4 79875 broad.mit.edu 37 15 72039333 72039333 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:72039333C>G uc002atb.1 + 12 2272 c.2193C>G c.(2191-2193)TGC>TGG p.C731W THSD4_uc002ate.2_Missense_Mutation_p.C371W NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 731 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 CCAGCACCTGCCAACTCAAGA 0.657 NaN 0 0 0 0.006214 0 7 12 ISLR2 57611 broad.mit.edu 37 15 74425108 74425108 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:74425108C>T uc002axd.2 + 4 782 c.13C>T c.(13-15)CGG>TGG p.R5W ISLR2_uc002axe.2_Missense_Mutation_p.R5W|ISLR2_uc010bjg.2_Missense_Mutation_p.R5W|ISLR2_uc010bjf.2_Missense_Mutation_p.R5W NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 5 positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 GTTCCCCCTTCGGGCCCTGTG 0.622 NaN 0 0 0 0.001855 0 12 24 DNAJA4 55466 broad.mit.edu 37 15 78566699 78566699 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:78566699C>T uc002bdj.1 + 4 696 c.579C>T c.(577-579)CGC>CGT p.R193R DNAJA4_uc002bdi.2_Silent_p.R222R|DNAJA4_uc002bdk.2_Silent_p.R166R|DNAJA4_uc002bdl.2_Silent_p.R108R|DNAJA4_uc002bdm.1_5'Flank NM_001130182 NP_001123654 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 193 CR-type. protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding skin(1) 1 CCAAGGACCGCTGCGAGAGCT 0.597 NaN 0 0 0 0.006122 0 18 36 FSD2 123722 broad.mit.edu 37 15 83447543 83447543 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:83447543C>T uc002bjd.2 - 6 1253 c.1086G>A c.(1084-1086)CTG>CTA p.L362L FSD2_uc010uol.1_Silent_p.L362L|FSD2_uc010uom.1_Silent_p.L362L NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 362 central_nervous_system(1) 1 TGGAGCCCATCAGCTGCTCCA 0.423 NaN 0 0 0 0.004482 0 9 17 ACAN 176 broad.mit.edu 37 15 89402347 89402347 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr15:89402347G>A uc010upo.1 + 12 6905 c.6531G>A c.(6529-6531)GTG>GTA p.V2177V ACAN_uc010upp.1_Silent_p.V2177V|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2177 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCAGTGATGTGGGGACAGAGG 0.607 NaN 0 0 0 0.007413 0 19 60 PDIA2 64714 broad.mit.edu 37 16 335191 335191 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:335191C>G uc002cgn.1 + 10 1894 c.786C>G c.(784-786)TTC>TTG p.F262L PDIA2_uc010bqt.1_Missense_Mutation_p.F107L|PDIA2_uc002cgo.1_Missense_Mutation_p.F262L NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 262 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TCACGGAGTTCAACAGCCAGG 0.662 NaN 0 0 0 0.001984 0 7 29 CHTF18 63922 broad.mit.edu 37 16 844108 844108 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:844108C>T uc002cke.3 + 15 1920 c.1857C>T c.(1855-1857)GAC>GAT p.D619D CHTF18_uc002ckf.3_Silent_p.D647D|CHTF18_uc010brf.2_Silent_p.D201D|CHTF18_uc002ckg.3_Silent_p.D137D NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 619 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) TGCTGGGTGACGGGGACGCGG 0.662 NaN 0 0 0 0.001855 0 13 56 TBC1D24 57465 broad.mit.edu 37 16 2546212 2546212 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:2546212C>T uc002cql.2 + 2 203 c.63C>T c.(61-63)GAC>GAT p.D21D TBC1D24_uc002cqk.2_Silent_p.D21D|TBC1D24_uc002cqm.2_Silent_p.D21D|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 21 neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 CCATCCAGGACCTGGGGCCCA 0.637 NaN 0 0 0 0.008871 0 20 36 TBC1D24 57465 broad.mit.edu 37 16 2546956 2546956 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:2546956C>G uc002cql.2 + 2 947 c.807C>G c.(805-807)ATC>ATG p.I269M TBC1D24_uc002cqk.2_Missense_Mutation_p.I269M|TBC1D24_uc002cqm.2_Missense_Mutation_p.I269M|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 269 neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 AGCAGGACATCCGCACGTTCG 0.622 NaN 0 0 0 0.006122 0 14 54 TBC1D24 57465 broad.mit.edu 37 16 2546965 2546965 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:2546965C>T uc002cql.2 + 2 956 c.816C>T c.(814-816)TTC>TTT p.F272F TBC1D24_uc002cqk.2_Silent_p.F272F|TBC1D24_uc002cqm.2_Silent_p.F272F|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 272 neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 TCCGCACGTTCGTCAGAGACA 0.622 NaN 0 0 0 0.004007 0 14 50 TNRC6A 27327 broad.mit.edu 37 16 24816470 24816470 + Nonsense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:24816470C>T uc002dmm.2 + 14 4234 c.4120C>T c.(4120-4122)CAG>TAG p.Q1374* TNRC6A_uc010bxs.2_Nonsense_Mutation_p.Q1121*|TNRC6A_uc002dmn.2_Nonsense_Mutation_p.Q1072*|TNRC6A_uc002dmo.2_Nonsense_Mutation_p.Q1013*|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_Nonsense_Mutation_p.Q41* NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1374 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ACTCTCCCCTCAGGTAAATAA 0.438 NaN 0 0 0 0.007291 0 27 76 GTF3C1 2975 broad.mit.edu 37 16 27475748 27475748 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:27475748G>A uc002dov.1 - 34 5805 c.5765C>T c.(5764-5766)GCG>GTG p.A1922V GTF3C1_uc002dou.2_Missense_Mutation_p.A1922V NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1922 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TGCTGCTCCCGCTGCAGCGGT 0.642 NaN 0 0 0 0.00361 0 46 120 SH2B1 25970 broad.mit.edu 37 16 28878727 28878727 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:28878727G>C uc002dri.2 + 5 1454 c.1015G>C c.(1015-1017)GAC>CAC p.D339H uc010vct.1_Intron|SH2B1_uc010vdc.1_Missense_Mutation_p.D29H|SH2B1_uc002drj.2_Missense_Mutation_p.D339H|SH2B1_uc002drk.2_Missense_Mutation_p.D339H|SH2B1_uc002drl.2_Missense_Mutation_p.D339H|SH2B1_uc010vdd.1_Missense_Mutation_p.D3H|SH2B1_uc010vde.1_Missense_Mutation_p.D339H|SH2B1_uc002drm.2_Missense_Mutation_p.D339H NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 339 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 GGAGATGCCTGACCGGGAGAA 0.547 NaN 0 0 0 0.00361 0 53 145 MVP 9961 broad.mit.edu 37 16 29852959 29852959 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:29852959G>A uc002dui.2 + 9 1318 c.1234G>A c.(1234-1236)GAA>AAA p.E412K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E412K|MVP_uc010vea.1_Missense_Mutation_p.E6K NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 412 MVP 8. mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 GACCCAGGACGAAGTCCTGTG 0.617 NaN 0 0 0 0.001368 0 12 20 ZNF768 79724 broad.mit.edu 37 16 30535908 30535908 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:30535908C>T uc002dyk.3 - 2 1729 c.1553G>A c.(1552-1554)TGC>TAC p.C518Y ZNF768_uc010vex.1_Missense_Mutation_p.C487Y|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.C487Y NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 518 C2H2-type 10. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 GGCCTTTCCGCAGTCATCGCA 0.692 NaN 0 0 0 0.001368 0 11 32 OGFOD1 55239 broad.mit.edu 37 16 56509430 56509430 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:56509430G>A uc002ejb.2 + 12 1521 c.1420G>A c.(1420-1422)GAA>AAA p.E474K OGFOD1_uc002ejc.2_Missense_Mutation_p.E334K NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 474 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) CTGGGAGCCAGAATATGGCGG 0.383 NaN 0 0 0 0.00361 0 41 63 SLC9A5 6553 broad.mit.edu 37 16 67298323 67298323 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:67298323C>T uc002esm.2 + 13 1974 c.1911C>T c.(1909-1911)TTC>TTT p.F637F SLC9A5_uc010cee.2_Silent_p.F342F|SLC9A5_uc010vji.1_Silent_p.F141F NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 637 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) AGGAGGTCTTCCAGCAGAACA 0.587 NaN 0 0 0 0.006214 0 8 20 CTCF 10664 broad.mit.edu 37 16 67654676 67654676 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:67654676G>A uc002etl.2 + 6 1453 c.1163G>A c.(1162-1164)AGC>AAC p.S388N CTCF_uc010cek.2_Missense_Mutation_p.S60N NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 388 C2H2-type 5. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGTTATGCCAGCAGGGACACA 0.443 NaN 0 0 0 0.001523 0 22 52 ACD 65057 broad.mit.edu 37 16 67692069 67692069 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:67692069C>T uc002etq.3 - 10 1621 c.1284G>A c.(1282-1284)CAG>CAA p.Q428Q ACD_uc002etp.3_Silent_p.Q425Q|ACD_uc002etr.3_Silent_p.Q425Q|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 428 Ser-rich. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GAGTGCAGCTCTGGAGTGGGG 0.642 NaN 0 0 0 0.00499 0 13 29 SPIRE2 84501 broad.mit.edu 37 16 89895104 89895104 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr16:89895104G>A uc002foz.1 + 1 198 c.146G>A c.(145-147)CGC>CAC p.R49H SPIRE2_uc010civ.1_5'UTR|SPIRE2_uc010ciw.1_Missense_Mutation_p.R49H NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 49 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CAGGGCTGCCGCGGGCTGCGG 0.552 NaN 0 0 0 0.000602 0 4 8 ITGAE 3682 broad.mit.edu 37 17 3661136 3661136 + Nonsense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:3661136G>C uc002fwo.3 - 9 983 c.884C>G c.(883-885)TCA>TGA p.S295* NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 295 VWFA.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GCCGTGGCTTGAGGTGAAGAT 0.522 NaN 0 0 0 0.002522 0 44 56 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.007291 0 25 23 MAP2K3 5606 broad.mit.edu 37 17 21204234 21204234 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:21204234G>A uc002gys.2 + 5 593 c.328G>A c.(328-330)GAC>AAC p.D110N MAP2K3_uc002gyt.2_Missense_Mutation_p.D81N|MAP2K3_uc002gyu.2_Missense_Mutation_p.D81N NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 110 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GCTGCTCATGGACCTGGACAT 0.587 NaN 0 0 0 0.008291 0 11 80 CSF3 1440 broad.mit.edu 37 17 38173107 38173107 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:38173107C>T uc002htp.2 + 5 559 c.519C>T c.(517-519)TTC>TTT p.F173F CSF3_uc002hto.2_Silent_p.F170F|CSF3_uc002htq.2_Silent_p.F166F|CSF3_uc010wep.1_Silent_p.F130F NM_000759 NP_000750 P09919 CSF3_HUMAN colony stimulating factor 3 isoform a precursor 173 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity ovary(1) 1 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGCCGGCCTTCGCCTCTGCTT 0.647 NaN 0 0 0 0.004656 0 25 45 NR1D1 9572 broad.mit.edu 37 17 38253437 38253437 + Nonsense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:38253437G>C uc002htz.1 - 2 877 c.251C>G c.(250-252)TCA>TGA p.S84* NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank NM_021724 NP_068370 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 84 Poly-Ser. cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding skin(1) 1 Colorectal(19;0.000442) cgaggaagatgaggaagaagg 0.478 NaN 0 0 0 0.00245 0 15 38 TNS4 84951 broad.mit.edu 37 17 38645050 38645050 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:38645050G>C uc010cxb.2 - 3 775 c.611C>G c.(610-612)TCT>TGT p.S204C NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 204 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CTGGTTCCCAGAGAAGATGAG 0.647 NaN 0 0 0 0.00278 0 22 44 KRTAP9-8 83901 broad.mit.edu 37 17 39394660 39394660 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:39394660G>C uc002hwh.3 + 1 391 c.357G>C c.(355-357)CAG>CAC p.Q119H KRTAP9-9_uc010wfq.1_Intron NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN keratin associated protein 9.8 119 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament ovary(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCCTAAACCAGAGCTGTGGCT 0.622 NaN 0 0 0 0.005524 0 30 66 BRIP1 83990 broad.mit.edu 37 17 59763374 59763374 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:59763374C>G uc002izk.1 - 19 2869 c.2728G>C c.(2728-2730)GAA>CAA p.E910Q BRIP1_uc002izl.1_Missense_Mutation_p.E291Q NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 910 Interaction with BRCA1. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 GAGGTCACTTCAAGTGTAGAC 0.368 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.00361 0 83 101 MED13 9969 broad.mit.edu 37 17 60111268 60111268 + Missense_Mutation SNP A A T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:60111268A>T uc002izo.2 - 5 771 c.694T>A c.(694-696)TTA>ATA p.L232I NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 232 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TCACCAATTAATTTTTTTGTA 0.383 NaN 0 0 0 0.00499 0 17 49 ABCA9 10350 broad.mit.edu 37 17 66988371 66988371 + Nonsense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:66988371G>A uc002jhu.2 - 28 3804 c.3661C>T c.(3661-3663)CGA>TGA p.R1221* ABCA9_uc010dez.2_Nonsense_Mutation_p.R1183* NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1221 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TCTAGGCATCGCAGAATGAAA 0.318 NaN 0 0 0 0.001168 0 6 20 OTOP3 347741 broad.mit.edu 37 17 72937560 72937560 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:72937560G>A uc010wrr.1 + 2 146 c.146G>A c.(145-147)CGA>CAA p.R49Q OTOP3_uc010wrq.1_Missense_Mutation_p.R31Q NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 49 integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) AAGGAGAACCGAGTGGATGTG 0.552 NaN 0 0 0 0.000602 0 4 14 MIF4GD 57409 broad.mit.edu 37 17 73263627 73263627 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:73263627C>G uc002jnr.2 - 5 562 c.433G>C c.(433-435)GAG>CAG p.E145Q MIF4GD_uc002jno.2_Missense_Mutation_p.E186Q|MIF4GD_uc002jnp.2_Missense_Mutation_p.E179Q|MIF4GD_uc002jnq.2_Missense_Mutation_p.E186Q A9UHW6 MI4GD_HUMAN RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1; Short=hSLIP1; 145 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding ovary(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) ACCTCCTCCTCCTTGCTCAAA 0.612 NaN 0 0 0 0.008871 0 19 62 TRIM65 201292 broad.mit.edu 37 17 73887139 73887139 + Silent SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:73887139G>C uc002jpx.2 - 6 1311 c.1275C>G c.(1273-1275)CTC>CTG p.L425L NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 425 B30.2/SPRY. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTGGACGCAGAGCCCCCAGG 0.687 NaN 0 0 0 0.004482 0 9 19 TMC6 11322 broad.mit.edu 37 17 76113638 76113638 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:76113638C>T uc002juj.1 - 16 2235 c.2109G>A c.(2107-2109)GCG>GCA p.A703A TMC6_uc002jui.1_Silent_p.A282A|TMC6_uc010dhf.1_Silent_p.A536A|TMC6_uc002juk.2_Silent_p.A703A|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.A703A NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 703 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGGGGCCTGCCGCCTCCAGGT 0.667 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 0.000602 0 4 9 ACTG1 71 broad.mit.edu 37 17 79479123 79479123 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:79479123C>T uc002kaj.1 - 2 194 c.169G>A c.(169-171)GAG>AAG p.E57K ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_Missense_Mutation_p.E14K|ACTG1_uc002kak.1_Missense_Mutation_p.E57K|ACTG1_uc010wun.1_Missense_Mutation_p.E57K|ACTG1_uc002kal.1_Missense_Mutation_p.E57K|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 57 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CTCTGGGCCTCGTCGCCCACG 0.642 NaN 0 0 0 0.00361 0 50 27 ZNF750 79755 broad.mit.edu 37 17 80788479 80788479 + Nonsense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr17:80788479G>A uc002kga.2 - 3 2022 c.1711C>T c.(1711-1713)CGA>TGA p.R571* TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 571 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTCGTGGTCGACCGGGGAAG 0.622 NaN 0 0 0 0.008361 0 23 36 LAMA3 3909 broad.mit.edu 37 18 21508633 21508633 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr18:21508633C>T uc002kuq.2 + 64 8426 c.8340C>T c.(8338-8340)TTC>TTT p.F2780F LAMA3_uc002kur.2_Silent_p.F2724F|LAMA3_uc002kus.3_Silent_p.F1171F|LAMA3_uc002kut.3_Silent_p.F1115F NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2780 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AATTGAGTTTCACTGATTTGG 0.423 NaN 0 0 0 0.00361 0 50 72 CD226 10666 broad.mit.edu 37 18 67563226 67563226 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr18:67563226C>G uc010dqo.2 - 3 885 c.438G>C c.(436-438)AAG>AAC p.K146N CD226_uc002lkm.3_Missense_Mutation_p.K146N NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 146 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) GTGTGACATTCTTTCCAGGTT 0.458 NaN 0 0 0 0.001882 0 18 32 ADNP2 22850 broad.mit.edu 37 18 77894028 77894028 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr18:77894028G>A uc002lnw.2 + 4 1187 c.732G>A c.(730-732)GAG>GAA p.E244E NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 244 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GAGATTTGGAGAATAAGCTTA 0.423 NaN 0 0 0 0.001855 0 14 40 APC2 10297 broad.mit.edu 37 19 1456894 1456894 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:1456894G>A uc002lsr.1 + 9 1067 c.859G>A c.(859-861)GAC>AAC p.D287N APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.D287N|APC2_uc002lsu.1_Missense_Mutation_p.D286N NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 287 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGACGCGCGACCAGGAGGA 0.677 NaN 0 0 0 0.000602 0 5 1 C19orf36 113177 broad.mit.edu 37 19 2097472 2097472 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:2097472C>T uc002luw.1 + 3 425 c.348C>T c.(346-348)CTC>CTT p.L116L C19orf36_uc002lux.1_Silent_p.L116L|C19orf36_uc010xgw.1_Silent_p.L116L NM_001039846 NP_001034935 Q1ZYL8 IZUM4_HUMAN hypothetical protein LOC113177 isoform 3 116 extracellular region 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGCACCTCATCCAGAACG 0.607 NaN OREG0025135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004007 0 15 42 UHRF1 29128 broad.mit.edu 37 19 4941939 4941939 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:4941939G>C uc002mbo.2 + 7 1237 c.1069G>C c.(1069-1071)GAG>CAG p.E357Q UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.E370Q NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 357 PHD-type. cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CAGCGAGGACGAGTGGTGAGT 0.612 NaN 0 0 0 0.004672 0 2 4 HNRNPM 4670 broad.mit.edu 37 19 8533687 8533687 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:8533687C>T uc010dwe.2 + 9 944 c.864C>T c.(862-864)TTC>TTT p.F288F HNRNPM_uc010dwc.1_Silent_p.F288F|HNRNPM_uc010xke.1_Silent_p.F249F|HNRNPM_uc010dwd.2_Silent_p.F249F|HNRNPM_uc002mka.2_Silent_p.F168F NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 288 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 AAGGAGATTTCTTCCCTCCTG 0.323 NaN 0 0 0 0.00632 0 24 47 COL5A3 50509 broad.mit.edu 37 19 10116382 10116382 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:10116382C>G uc002mmq.1 - 4 532 c.446G>C c.(445-447)CGT>CCT p.R149P NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 149 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) GACGGCCACACGGTGCCACCT 0.627 NaN 0 0 0 0.001984 0 7 23 KEAP1 9817 broad.mit.edu 37 19 10602630 10602630 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:10602630C>T uc002moq.1 - 3 1104 c.948G>A c.(946-948)GTG>GTA p.V316V KEAP1_uc002mop.1_Silent_p.V34V|KEAP1_uc002mor.1_Silent_p.V316V NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGCAGGGCATCACCTGCGTGG 0.637 NaN 0 0 0 0.008291 0 10 36 KEAP1 9817 broad.mit.edu 37 19 10602926 10602926 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:10602926C>G uc002moq.1 - 3 808 c.652G>C c.(652-654)GAG>CAG p.E218Q KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E218Q NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 218 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.E218Q(1) lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AAGAACTCCTCTTGCTTGGCC 0.557 NaN 0 0 0 0.000602 0 4 16 ZNF439 90594 broad.mit.edu 37 19 11978815 11978815 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:11978815C>T uc002mss.2 + 3 1059 c.931C>T c.(931-933)CGT>TGT p.R311C ZNF439_uc002msr.2_Missense_Mutation_p.R175C NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 311 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CATGTGTCCCCGTTATGTTCG 0.413 NaN 0 0 0 0.008871 0 17 66 CRLF1 9244 broad.mit.edu 37 19 18705144 18705144 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:18705144C>T uc010ebt.1 - 7 1319 c.1125G>A c.(1123-1125)AAG>AAA p.K375K NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 375 negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 ACGCGTGCTTCTTGAGCCAGC 0.577 NaN 0 0 0 0.00308 0 8 22 SF4 57794 broad.mit.edu 37 19 19407889 19407889 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:19407889C>G uc002nmh.2 - 8 1154 c.1152G>C c.(1150-1152)AAG>AAC p.K384N SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.K174N|SF4_uc002nmj.2_Missense_Mutation_p.K174N|SF4_uc010xqr.1_RNA NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 384 Nuclear localization signal (Potential). nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 CCCACCGGCTCTTCCGCTTCC 0.667 NaN 0 0 0 0.007413 0 17 27 NPHS1 4868 broad.mit.edu 37 19 36322242 36322242 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:36322242C>T uc002oby.2 - 26 3343 c.3343G>A c.(3343-3345)GAG>AAG p.E1115K NPHS1_uc010eem.1_RNA NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1115 Cytoplasmic (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGCTCTCCTCATATTCGTTC 0.627 NaN 0 0 0 0.002445 0 32 52 CATSPERG 57828 broad.mit.edu 37 19 38851428 38851428 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:38851428G>A uc002oih.3 + 16 1912 c.1825G>A c.(1825-1827)GAG>AAG p.E609K CATSPERG_uc002oig.3_Missense_Mutation_p.E569K|CATSPERG_uc002oif.3_Missense_Mutation_p.E249K|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 609 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CGTGCCCGTGGAGCAGCTTCT 0.577 NaN 0 0 0 0.001168 0 4 11 RYR1 6261 broad.mit.edu 37 19 39071143 39071143 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:39071143C>T uc002oit.2 + 101 14775 c.14645C>T c.(14644-14646)ACG>ATG p.T4882M RYR1_uc002oiu.2_Missense_Mutation_p.T4877M NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4882 Helical; Name=M9; (Potential). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GACATGATGACGGTGAGCCCC 0.313 NaN 0 0 0 0.002299 0 23 34 DLL3 10683 broad.mit.edu 37 19 39995950 39995950 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:39995950G>C uc002olx.2 + 6 1010 c.952G>C c.(952-954)GAT>CAT p.D318H DLL3_uc010egq.2_Missense_Mutation_p.D318H|DLL3_uc002olw.2_Missense_Mutation_p.D318H NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN delta-like 3 protein isoform 1 precursor 318 EGF-like 3.|Extracellular (Potential). Notch signaling pathway|skeletal system development integral to membrane Notch binding central_nervous_system(2)|breast(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GACATGTGCAGATGGACCCTG 0.617 NaN 0 0 0 0.006999 0 35 61 CYP2B6 1555 broad.mit.edu 37 19 41522600 41522600 + Silent SNP C C A rs138937514 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:41522600C>A uc002opr.1 + 9 1351 c.1344C>A c.(1342-1344)CTC>CTA p.L448L CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.L248L NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 448 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AATTGTTCCTCTTCTTCACCA 0.572 NaN 1 0 4.68919e-08 0.008291 8.46595e-08 11 15 CEACAM8 1088 broad.mit.edu 37 19 43097693 43097693 + Missense_Mutation SNP G G A rs146875157 byFrequency TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:43097693G>A uc002oud.2 - 2 526 c.424C>T c.(424-426)CCG>TCG p.P142S uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 142 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) AATCACTCACGATGTACGCTG 0.498 NaN 0 0 0 0.002096 0 33 64 RTN2 6253 broad.mit.edu 37 19 45998201 45998201 + Nonsense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:45998201C>A uc002pcb.2 - 3 370 c.142G>T c.(142-144)GAG>TAG p.E48* RTN2_uc002pcc.2_Nonsense_Mutation_p.E48*|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 48 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) GTCTCCTCCTCGTCCTCCTCT 0.617 NaN 1 0 4.72057e-08 0.003954 8.50167e-08 25 31 GPR4 2828 broad.mit.edu 37 19 46094676 46094676 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:46094676G>C uc002pcm.2 - 2 1394 c.449C>G c.(448-450)TCG>TGG p.S150W OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 150 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CAGGGGCGCCGAGTTGGCGCC 0.667 NaN 0 0 0 0.00333 0 23 65 IRF2BP1 26145 broad.mit.edu 37 19 46388452 46388452 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:46388452G>C uc002pds.1 - 1 925 c.581C>G c.(580-582)TCC>TGC p.S194C NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CTCGAAATCGGAGCCGAAGAG 0.647 NaN 0 0 0 0.002096 0 29 85 PRRG2 5639 broad.mit.edu 37 19 50086939 50086939 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:50086939G>A uc002pon.3 + 3 391 c.226G>A c.(226-228)GAG>AAG p.E76K PRRG2_uc010yaz.1_Missense_Mutation_p.E53K NM_000951 NP_000942 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 76 Gla.|Extracellular (Potential). extracellular region|integral to plasma membrane calcium ion binding skin(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) TTCCTGGGAAGAGGCCAGGGA 0.577 NaN 0 0 0 0.005443 0 26 60 GPR32 2854 broad.mit.edu 37 19 51274256 51274256 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:51274256C>G uc010ycf.1 + 1 399 c.399C>G c.(397-399)GTC>GTG p.V133V NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 133 Helical; Name=3; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GCCTCCTTGTCTTCATCTCTG 0.577 NaN 0 0 0 0.003214 0 42 106 KLK6 5653 broad.mit.edu 37 19 51470546 51470546 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:51470546C>T uc002pui.2 - 4 336 c.76G>A c.(76-78)GGA>AGA p.G26R KLK6_uc010eoj.2_Missense_Mutation_p.G26R|KLK6_uc002puh.2_Missense_Mutation_p.G35R|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.G26R|KLK6_uc002pum.2_Intron NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 26 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TCGCAGGGTCCGCCATGCACC 0.572 NaN 0 0 0 0.003271 0 34 16 SIGLEC6 946 broad.mit.edu 37 19 52023405 52023405 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:52023405G>T uc002pwy.2 - 8 1455 c.1293C>A c.(1291-1293)TTC>TTA p.F431L SIGLEC6_uc002pwz.2_Missense_Mutation_p.F415L|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Missense_Mutation_p.F368L|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 431 Cytoplasmic (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GCACCTTGTGGAAGTGTAGGA 0.502 NaN 1 0 9.84934e-19 0.002522 1.86071e-18 42 141 ZNF175 7728 broad.mit.edu 37 19 52090205 52090205 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:52090205G>A uc002pxb.2 + 5 999 c.621G>A c.(619-621)CTG>CTA p.L207L NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 207 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTTTGAAGCTGAACCTAGAAG 0.443 NaN 0 0 0 0.008871 0 18 61 LILRA2 11027 broad.mit.edu 37 19 55086014 55086014 + Nonsense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:55086014C>G uc002qgg.3 + 3 406 c.317C>G c.(316-318)TCA>TGA p.S106* LILRA2_uc010ern.2_Nonsense_Mutation_p.S106*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.S106*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.S106*|LILRA2_uc010yff.1_Nonsense_Mutation_p.S94*|LILRA2_uc010ero.2_Nonsense_Mutation_p.S94*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.S106* NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 106 Extracellular (Potential).|Ig-like C2-type 1. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) AATCACTCATCAGAGTACAGT 0.592 NaN 0 0 0 0.00245 0 15 30 PPP1R12C 54776 broad.mit.edu 37 19 55607503 55607503 + Nonsense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr19:55607503G>A uc002qix.2 - 8 1085 c.1069C>T c.(1069-1071)CAG>TAG p.Q357* PPP1R12C_uc010yfs.1_Nonsense_Mutation_p.Q283*|PPP1R12C_uc002qiy.2_Nonsense_Mutation_p.Q357* NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 357 cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GACAAGTCCTGGAGGGAAATC 0.672 NaN 0 0 0 0.008871 0 19 40 ADAM17 6868 broad.mit.edu 37 2 9642368 9642368 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:9642368C>T uc002qzu.2 - 13 1765 c.1582G>A c.(1582-1584)GAG>AAG p.E528K ADAM17_uc010ewy.2_Missense_Mutation_p.E528K|ADAM17_uc010ewz.2_Intron NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 528 Disintegrin.|Extracellular (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) TGGGCAGTCTCAAACTGACAG 0.468 NaN 0 0 0 0.00361 0 57 123 NOL10 79954 broad.mit.edu 37 2 10712233 10712233 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:10712233C>T uc002raq.2 - 21 2156 c.2031G>A c.(2029-2031)CTG>CTA p.L677L NOL10_uc010yje.1_Silent_p.L651L|NOL10_uc010yjf.1_Silent_p.L627L|NOL10_uc002rap.2_Silent_p.L627L NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN nucleolar protein 10 677 nucleolus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) GTCTTGACTTCAGGTGTCCGG 0.478 NaN 0 0 0 0.00361 0 88 203 APOB 338 broad.mit.edu 37 2 21228217 21228217 + Silent SNP A A G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:21228217A>G uc002red.2 - 26 11651 c.11523T>C c.(11521-11523)AAT>AAC p.N3841N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3841 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGCTACTGCATTTAGATCCA 0.458 NaN 0 0 0 0.003271 0 32 71 CIB4 130106 broad.mit.edu 37 2 26806690 26806690 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:26806690C>A uc002rhm.2 - 5 434 c.405G>T c.(403-405)ATG>ATT p.M135I NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 135 calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCCTCAGACATGTCATCAC 0.567 NaN 1 0 7.41945e-09 0.005443 1.34283e-08 22 69 DPYSL5 56896 broad.mit.edu 37 2 27162914 27162914 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:27162914C>T uc002rhu.3 + 9 1121 c.963C>T c.(961-963)ATC>ATT p.I321I DPYSL5_uc002rhv.3_Silent_p.I321I NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 321 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCTGAACATCGTGGCATCAG 0.527 NaN 0 0 0 0.007835 0 36 87 SLC30A6 55676 broad.mit.edu 37 2 32419022 32419022 + Missense_Mutation SNP C C G rs148435831 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:32419022C>G uc002roe.1 + 8 503 c.466C>G c.(466-468)CGG>GGG p.R156G SLC30A6_uc002rof.1_Missense_Mutation_p.R196G|SLC30A6_uc010ymw.1_Missense_Mutation_p.R127G|SLC30A6_uc010ezr.1_Missense_Mutation_p.R156G|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Missense_Mutation_p.R82G|SLC30A6_uc002roh.1_5'UTR NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 156 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCTTTCTATTCGGAATAAACC 0.303 NaN 0 0 0 0.002836 0 29 87 CEBPZ 10153 broad.mit.edu 37 2 37441016 37441016 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:37441016C>G uc002rpz.2 - 10 2566 c.2536G>C c.(2536-2538)GAG>CAG p.E846Q NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 846 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) CCAATCAGCTCTTCAAATTCT 0.318 NaN 0 0 0 0.000978 0 12 16 EPAS1 2034 broad.mit.edu 37 2 46583348 46583348 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:46583348G>A uc002ruv.2 + 3 764 c.276G>A c.(274-276)CTG>CTA p.L92L NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 92 PAS 1. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACTTGTACCTGAAAGCCTTGG 0.517 NaN 0 0 0 0.00278 0 22 57 EPAS1 2034 broad.mit.edu 37 2 46583934 46583934 + Silent SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:46583934G>C uc002ruv.2 + 4 929 c.441G>C c.(439-441)CTG>CTC p.L147L NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 147 PAS 1. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GTGAGAACCTGAGTCTCAAAA 0.458 NaN 0 0 0 0.00499 0 16 33 GPR75 10936 broad.mit.edu 37 2 54080793 54080793 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:54080793G>A uc002rxo.3 - 2 1372 c.1101C>T c.(1099-1101)TTC>TTT p.F367F ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 367 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATCCTGACTTGAAAAATATAA 0.428 NaN 0 0 0 0.001855 0 14 57 EHBP1 23301 broad.mit.edu 37 2 63175857 63175857 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:63175857G>A uc002sby.2 + 14 2463 c.1981G>A c.(1981-1983)GGA>AGA p.G661R EHBP1_uc010fcp.2_Missense_Mutation_p.G626R|EHBP1_uc002sbz.2_Missense_Mutation_p.G626R|EHBP1_uc002scb.2_Missense_Mutation_p.G626R NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 661 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GCAGAGCTCTGGAAGGACTTC 0.468 NaN Hereditary_Prostate_Cancer 0 0 0 0.004007 0 17 24 SFTPB 6439 broad.mit.edu 37 2 85890579 85890579 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:85890579C>T uc002sqh.2 - 8 898 c.892G>A c.(892-894)GAG>AAG p.E298K SFTPB_uc002sqi.2_Missense_Mutation_p.E306K|SFTPB_uc002sqj.2_Missense_Mutation_p.E298K|SFTPB_uc010ysw.1_5'Flank NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B 298 Saposin B-type 3. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 AGGTGGCACTCAGAGTCTCGC 0.612 NaN 0 0 0 0.004007 0 14 28 AFF3 3899 broad.mit.edu 37 2 100170988 100170988 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:100170988C>T uc002tag.2 - 23 3580 c.3344G>A c.(3343-3345)GGA>GAA p.G1115E AFF3_uc002taf.2_Missense_Mutation_p.G1140E NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1115 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GGATGGGGTTCCAGTGCTCCT 0.652 NaN 0 0 0 0.000248 0 4 7 CCDC138 165055 broad.mit.edu 37 2 109411023 109411023 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:109411023C>G uc002ten.1 + 5 482 c.422C>G c.(421-423)TCG>TGG p.S141W CCDC138_uc002teo.1_Missense_Mutation_p.S141W|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 141 0 ACGACCTCATCGAGACCTCGG 0.383 NaN 0 0 0 0.004289 0 32 58 MERTK 10461 broad.mit.edu 37 2 112705072 112705072 + Missense_Mutation SNP A A G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:112705072A>G uc002thk.1 + 4 807 c.685A>G c.(685-687)ATT>GTT p.I229V MERTK_uc002thl.1_Missense_Mutation_p.I53V NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 229 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 GCCCGTCAACATTTTCTGGGT 0.507 NaN 0 0 0 0.007413 0 19 56 IWS1 55677 broad.mit.edu 37 2 128255777 128255777 + Nonsense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:128255777C>A uc002ton.2 - 6 1807 c.1504G>T c.(1504-1506)GAA>TAA p.E502* IWS1_uc010yzl.1_Intron NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 502 Glu-rich. transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) ACCTGTGTTTCACCTTTTTCT 0.299 NaN 1 0 2.39556e-15 0.00278 4.50243e-15 23 61 SCN9A 6335 broad.mit.edu 37 2 167168028 167168028 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:167168028G>A uc010fpl.2 - 2 580 c.239C>T c.(238-240)CCC>CTC p.P80L NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 80 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCATAGTAGGGGTCCAAGTC 0.448 NaN 0 0 0 0.005524 0 38 28 TTN 7273 broad.mit.edu 37 2 179431057 179431057 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:179431057C>A uc010zfg.1 - 275 72322 c.72098G>T c.(72097-72099)GGA>GTA p.G24033V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17728V|TTN_uc010zfi.1_Missense_Mutation_p.G17661V|TTN_uc010zfj.1_Missense_Mutation_p.G17536V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24960 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACAACAATTCCTTTTCTTAA 0.438 NaN 1 0 2.73381e-35 0.00361 5.25953e-35 55 127 TTN 7273 broad.mit.edu 37 2 179622543 179622543 + Silent SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:179622543G>T uc010zfi.1 - 44 10490 c.10266C>A c.(10264-10266)ATC>ATA p.I3422I TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133432 NP_597676 Q8WZ42 TITIN_HUMAN titin isoform novex-1 3506 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGAGGCTGGATGAAGCTGG 0.458 NaN 1 0 1.21457e-23 0.00361 2.30643e-23 86 62 DNAH7 56171 broad.mit.edu 37 2 196698996 196698996 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:196698996C>A uc002utj.3 - 48 9135 c.9034G>T c.(9034-9036)GTG>TTG p.V3012L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3012 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGTTTAATCACATAAAGACTA 0.383 NaN 1 0 3.11337e-16 0.002836 5.86659e-16 35 14 ABCA12 26154 broad.mit.edu 37 2 215875186 215875186 + Missense_Mutation SNP A A G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:215875186A>G uc002vew.2 - 18 2561 c.2341T>C c.(2341-2343)TGC>CGC p.C781R ABCA12_uc002vev.2_Missense_Mutation_p.C463R|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 781 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGGGAGAAGCAAAATGGTGCT 0.368 NaN 0 0 0 0.00245 0 14 11 HDLBP 3069 broad.mit.edu 37 2 242186257 242186257 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:242186257C>G uc002waz.2 - 16 2088 c.1860G>C c.(1858-1860)GAG>GAC p.E620D HDLBP_uc002wba.2_Missense_Mutation_p.E620D|HDLBP_uc002wbb.2_Missense_Mutation_p.E572D NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 620 KH 7. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AATTGCTATTCTCTGCTGGAA 0.488 NaN 0 0 0 0.00361 0 61 144 TGM6 343641 broad.mit.edu 37 20 2377244 2377244 + Nonsense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:2377244C>T uc002wfy.1 + 4 578 c.517C>T c.(517-519)CGA>TGA p.R173* TGM6_uc010gal.1_Nonsense_Mutation_p.R173* NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 173 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) GAAGCACATACGAGCCCAGGG 0.612 NaN 0 0 0 0.001984 0 7 39 CDS2 8760 broad.mit.edu 37 20 5170443 5170443 + Silent SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:5170443G>C uc002wls.2 + 12 1421 c.1164G>C c.(1162-1164)CTG>CTC p.L388L CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Nonstop_Mutation_p.*340S|CDS2_uc010zqu.1_Silent_p.L268L|CDS2_uc002wlv.2_Silent_p.L290L|CDS2_uc010zqv.1_Silent_p.L158L NM_003818 NP_003809 O95674 CDS2_HUMAN phosphatidate cytidylyltransferase 2 388 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity 0 GCCAGTATCTGATGGCCACCT 0.468 NaN 0 0 0 0.003214 0 45 157 HAO1 54363 broad.mit.edu 37 20 7866353 7866353 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:7866353C>G uc002wmw.1 - 6 996 c.972G>C c.(970-972)CAG>CAC p.Q324H HAO1_uc010gbu.2_Missense_Mutation_p.Q324H NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 324 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 GTCCAGTTACCTGGAAAGCTA 0.428 NaN 0 0 0 0.00361 0 77 98 PAK7 57144 broad.mit.edu 37 20 9561234 9561234 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:9561234G>C uc002wnl.2 - 5 1093 c.548C>G c.(547-549)TCT>TGT p.S183C PAK7_uc002wnk.2_Missense_Mutation_p.S183C|PAK7_uc002wnj.2_Missense_Mutation_p.S183C|PAK7_uc010gby.1_Missense_Mutation_p.S183C NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 183 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) CTTCACCTCAGAATAGTAGGC 0.458 NaN 0 0 0 0.00361 0 70 102 FLRT3 23767 broad.mit.edu 37 20 14307438 14307438 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:14307438C>T uc002wov.1 - 3 1182 c.715G>A c.(715-717)GCT>ACT p.A239T MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.A239T NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 239 Extracellular (Potential).|LRR 8. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) ACTGGTGCAGCAGTCAGGGAA 0.438 NaN 0 0 0 0.007413 0 18 36 PLAGL2 5326 broad.mit.edu 37 20 30784504 30784504 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:30784504G>T uc002wxn.2 - 3 1459 c.1242C>A c.(1240-1242)TTC>TTA p.F414L NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 414 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTAGGTGGGAGAAGTCCACAT 0.642 NaN 1 0 0.000151284 0.001855 0.0002634 14 16 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:33345756T>C uc002xav.2 - 8 3366 c.795A>G c.(793-795)CAA>CAG p.Q265Q NCOA6_uc002xaw.2_Silent_p.Q265Q|NCOA6_uc010gew.1_Silent_p.Q222Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 gttgttgttgttgctgctgct 0.313 NaN 0 0 0 0.000602 0 4 63 KCNQ2 3785 broad.mit.edu 37 20 62065242 62065242 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:62065242G>C uc002yey.1 - 8 1215 c.1038C>G c.(1036-1038)TTC>TTG p.F346L KCNQ2_uc002yez.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfa.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfb.1_Missense_Mutation_p.F346L|KCNQ2_uc011aax.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfc.1_Missense_Mutation_p.F346L NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 346 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TGGTGGCGTAGAATCTCCAGG 0.692 NaN 0 0 0 0.006214 0 10 51 IFNAR1 3454 broad.mit.edu 37 21 34721714 34721714 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr21:34721714C>G uc002yrn.2 + 8 1155 c.1008C>G c.(1006-1008)GTC>GTG p.V336V IFNAR1_uc011adv.1_Silent_p.V267V NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 336 Fibronectin type-III 3.|Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTCCTCCAGTCTTTAACATTA 0.343 NaN 0 0 0 0.000978 0 12 20 ITSN1 6453 broad.mit.edu 37 21 35144562 35144562 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr21:35144562G>C uc002yta.1 + 12 1508 c.1240G>C c.(1240-1242)GAA>CAA p.E414Q DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E377Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E377Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E298Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E414Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E377Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E414Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E414Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E377Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E348Q NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 414 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 gaagcaactggaaaagcagcg 0.383 NaN 0 0 0 0.001168 0 6 1 PFKL 5211 broad.mit.edu 37 21 45726580 45726580 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr21:45726580C>G uc002zel.2 + 2 161 c.102C>G c.(100-102)GTC>GTG p.V34V PFKL_uc002zek.2_Silent_p.V81V|PFKL_uc011afd.1_Silent_p.V81V NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 34 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) ACGCTGCTGTCCGGGCTGTGA 0.602 NaN 0 0 0 0.00308 0 7 8 GNB1L 54584 broad.mit.edu 37 22 19799811 19799811 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr22:19799811G>A uc002zqe.1 - 4 808 c.414C>T c.(412-414)GAC>GAT p.D138D GNB1L_uc002zqd.1_Translation_Start_Site|GNB1L_uc002zqf.1_Silent_p.D138D NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 138 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) CTCTCACCTCGTCGCTGCCCC 0.647 NaN 0 0 0 0.001368 0 10 15 PPM1F 9647 broad.mit.edu 37 22 22280017 22280017 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr22:22280017C>T uc002zvp.1 - 7 1024 c.910G>A c.(910-912)GAA>AAA p.E304K PPM1F_uc011aik.1_Missense_Mutation_p.E200K|PPM1F_uc002zvq.2_Missense_Mutation_p.E304K NM_014634 NP_055449 P49593 PPM1F_HUMAN protein phosphatase 1F 304 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(2)|large_intestine(1)|breast(1)|kidney(1) 5 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) CCCAATGCTTCAATGCGCGCC 0.622 NaN 0 0 0 0.00499 0 14 22 GAS2L1 10634 broad.mit.edu 37 22 29708459 29708459 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr22:29708459G>A uc003afa.1 + 7 2218 c.2019G>A c.(2017-2019)CCG>CCA p.P673P GAS2L1_uc010gvm.1_Silent_p.P446P|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.P673P|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 673 cell cycle arrest cytoplasm|cytoskeleton 0 CAGTCACCCCGAGGGCTGAGC 0.637 NaN 0 0 0 0.000602 0 5 18 EIF4ENIF1 56478 broad.mit.edu 37 22 31838041 31838041 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr22:31838041G>T uc003akz.1 - 17 2434 c.2270C>A c.(2269-2271)TCC>TAC p.S757Y EIF4ENIF1_uc003akx.1_Missense_Mutation_p.S412Y|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.S437Y|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.S757Y|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.S583Y|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.S247Y NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 757 nucleus protein binding|protein transporter activity ovary(1) 1 TGACAGTTTGGAATTTGTAGT 0.468 NaN 1 0 5.48756e-27 0.002852 1.05298e-26 42 113 FOXRED2 80020 broad.mit.edu 37 22 36892254 36892254 + Missense_Mutation SNP T T G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr22:36892254T>G uc003apn.3 - 6 1492 c.1384A>C c.(1384-1386)AAT>CAT p.N462H FOXRED2_uc003apm.3_Missense_Mutation_p.N14H|FOXRED2_uc003apo.3_Missense_Mutation_p.N462H|FOXRED2_uc003app.3_Missense_Mutation_p.N462H NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 462 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 GCCGTGGAATTCCTGGGAGAA 0.617 NaN 0 0 0 0.00245 0 14 49 EP300 2033 broad.mit.edu 37 22 41545045 41545045 + Missense_Mutation SNP A A G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr22:41545045A>G uc003azl.3 + 13 2640 c.2245A>G c.(2245-2247)ATG>GTG p.M749V NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 749 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TTTTCAGCCTATGGGCTATGG 0.393 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.003163 0 15 34 CCDC134 79879 broad.mit.edu 37 22 42209302 42209302 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr22:42209302C>T uc003bbh.1 + 5 454 c.345C>T c.(343-345)TTC>TTT p.F115F WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron NM_024821 NP_079097 Q9H6E4 CC134_HUMAN coiled-coil domain containing 134 precursor 115 extracellular region ovary(2) 2 CGGCCTTCTTCGGCGATGTGG 0.592 NaN 0 0 0 0.002445 0 28 83 CCR3 1232 broad.mit.edu 37 3 46306696 46306696 + Missense_Mutation SNP A A G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:46306696A>G uc003cpg.1 + 4 590 c.47A>G c.(46-48)TAC>TGC p.Y16C CCR3_uc003cpi.1_Missense_Mutation_p.Y16C|CCR3_uc003cpj.1_Missense_Mutation_p.Y16C|CCR3_uc003cpk.1_Missense_Mutation_p.Y37C|CCR3_uc010hjb.1_Missense_Mutation_p.Y34C|CCR3_uc003cpl.1_Missense_Mutation_p.Y49C NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 16 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) ACCACATCCTACTATGATGAC 0.478 NaN 0 0 0 0.002299 0 19 21 CCR5 1234 broad.mit.edu 37 3 46414985 46414985 + Missense_Mutation SNP A A G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:46414985A>G uc003cpo.3 + 3 714 c.592A>G c.(592-594)ATA>GTA p.I198V CCR5_uc010hjd.2_Missense_Mutation_p.I198V NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 198 Extracellular (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GACATTAAAGATAGTCATCTT 0.438 NaN 0 0 0 0.00361 0 110 127 FLNB 2317 broad.mit.edu 37 3 58120443 58120443 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:58120443G>T uc003djj.2 + 27 4780 c.4615G>T c.(4615-4617)GAC>TAC p.D1539Y FLNB_uc010hne.2_Missense_Mutation_p.D1570Y|FLNB_uc003djk.2_Missense_Mutation_p.D1539Y|FLNB_uc010hnf.2_Missense_Mutation_p.D1539Y|FLNB_uc003djl.2_Missense_Mutation_p.D1370Y|FLNB_uc003djm.2_Missense_Mutation_p.D1370Y NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1539 Filamin 14. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCTACCTGTGGACTTTGCAAT 0.507 NaN 1 0 4.17463e-26 0.00361 7.98956e-26 52 70 IQCB1 9657 broad.mit.edu 37 3 121507259 121507259 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:121507259G>A uc010hre.1 - 12 1365 c.1150C>T c.(1150-1152)CGG>TGG p.R384W IQCB1_uc003eek.2_Missense_Mutation_p.R251W|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 384 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) TCCATTTCCCGATAGTGTTTC 0.388 NaN 0 0 0 0.00361 0 50 211 SEMA5B 54437 broad.mit.edu 37 3 122646791 122646791 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:122646791G>C uc003efz.1 - 8 1000 c.696C>G c.(694-696)GAC>GAG p.D232E SEMA5B_uc011bju.1_Missense_Mutation_p.D174E|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.D232E|SEMA5B_uc010hro.1_Missense_Mutation_p.D174E|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 232 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGTGGCGTGGGTCATAGGGGC 0.612 NaN 0 0 0 0.001855 0 13 87 DNAJC13 23317 broad.mit.edu 37 3 132185188 132185188 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:132185188G>C uc003eor.2 + 19 2079 c.2014G>C c.(2014-2016)GAG>CAG p.E672Q DNAJC13_uc010htq.1_Missense_Mutation_p.E672Q NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 672 heat shock protein binding ovary(1)|breast(1) 2 TCTCGTACCTGAGAAGGATGC 0.393 NaN 0 0 0 0.007413 0 17 63 XRN1 54464 broad.mit.edu 37 3 142151723 142151723 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:142151723C>G uc003eus.2 - 2 155 c.88G>C c.(88-90)GAC>CAC p.D30H XRN1_uc003eut.2_Missense_Mutation_p.D30H|XRN1_uc003euu.2_Missense_Mutation_p.D30H|XRN1_uc003euw.2_Missense_Mutation_p.D30H|XRN1_uc011bnh.1_5'UTR NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 30 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TACAAGTTGTCAAATTCAGGA 0.308 NaN 0 0 0 0.006214 0 10 45 GFM1 85476 broad.mit.edu 37 3 158363446 158363446 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:158363446C>T uc003fce.2 + 2 217 c.110C>T c.(109-111)TCA>TTA p.S37L GFM1_uc003fcd.2_Missense_Mutation_p.S37L|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_5'Flank NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 37 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CGATGGTCTTCATCAGGGGTG 0.368 NaN 0 0 0 0.002299 0 22 65 SLC7A14 57709 broad.mit.edu 37 3 170216488 170216488 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:170216488C>T uc003fgz.2 - 4 1043 c.727G>A c.(727-729)GAG>AAG p.E243K CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 243 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AACTGGCCCTCCGCCCAGTAT 0.517 NaN 0 0 0 0.003163 0 15 44 PIK3CA 5290 broad.mit.edu 37 3 178928074 178928074 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:178928074G>T uc003fjk.2 + 8 1509 c.1352G>T c.(1351-1353)GGA>GTA p.G451V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 451 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G451_L456>V(1)|p.P449_L455del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTACCTCATGGATTAGAAGAT 0.348 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 1 0 9.65021e-13 0.002096 1.78626e-12 30 102 ECE2 9718 broad.mit.edu 37 3 184001650 184001650 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:184001650G>C uc003fni.3 + 8 1286 c.1248G>C c.(1246-1248)CAG>CAC p.Q416H ECE2_uc011brh.1_Missense_Mutation_p.Q269H|ECE2_uc003fnl.3_Missense_Mutation_p.Q344H|ECE2_uc003fnm.3_Missense_Mutation_p.Q298H|ECE2_uc003fnk.3_Missense_Mutation_p.Q269H|ECE2_uc011bri.1_Missense_Mutation_p.Q331H|ECE2_uc010hxv.2_Missense_Mutation_p.Q60H NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 416 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGAGGGAGCAGATGCAGCAGG 0.597 NaN 0 0 0 0.001984 0 7 27 C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:192516720G>C uc011bsp.1 - 2 1252 c.931C>G c.(931-933)CAG>GAG p.Q311E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGCAGGCCTGATAGGCCTGC 0.557 NaN 0 0 0 0.000978 0 11 44 SMR3B 10879 broad.mit.edu 37 4 71255498 71255498 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:71255498G>C uc011cas.1 + 3 254 c.173G>C c.(172-174)AGA>ACA p.R58T SMR3B_uc003hfh.2_Missense_Mutation_p.R58T NM_006685 NP_006676 P02814 SMR3B_HUMAN submaxillary gland androgen regulated protein 3 58 Pro-rich. extracellular space p.R58K(1) skin(1) 1 all_hematologic(202;0.196) GGTCCAGGGAGAATCCCACCT 0.602 NaN 0 0 0 0.003755 0 33 47 PDLIM5 10611 broad.mit.edu 37 4 95561504 95561504 + Missense_Mutation SNP A A C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:95561504A>C uc003hti.2 + 9 1337 c.1186A>C c.(1186-1188)ACC>CCC p.T396P PDLIM5_uc011cdx.1_Missense_Mutation_p.T293P|PDLIM5_uc003hth.2_Missense_Mutation_p.T287P|PDLIM5_uc003htj.2_Missense_Mutation_p.T71P|PDLIM5_uc003htk.2_Missense_Mutation_p.T425P|PDLIM5_uc011cdy.1_Missense_Mutation_p.T274P|PDLIM5_uc003htl.2_Missense_Mutation_p.T71P NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 396 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TTTGGGACAAACCCAGCCAAG 0.493 NaN 0 0 0 0.002445 0 33 42 CENPE 1062 broad.mit.edu 37 4 104082504 104082504 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:104082504C>G uc003hxb.1 - 19 2043 c.1953G>C c.(1951-1953)CTG>CTC p.L651L CENPE_uc003hxc.1_Silent_p.L626L NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 651 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTTCTCCTTCAGCTCCAGAT 0.333 NaN 0 0 0 0.000248 0 4 43 TET2 54790 broad.mit.edu 37 4 106157172 106157172 + Silent SNP T T G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:106157172T>G uc003hxk.2 + 3 2459 c.2073T>G c.(2071-2073)ACT>ACG p.T691T TET2_uc011cez.1_Silent_p.T712T|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.T691T|TET2_uc003hxi.1_Silent_p.T691T NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 691 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ATTCCCAAACTGAAAAACTTA 0.418 NaN Mis N|F MDS 0 0 0 0.00245 0 13 69 CAMK2D 817 broad.mit.edu 37 4 114434999 114434999 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:114434999C>G uc003ibi.2 - 11 1749 c.890G>C c.(889-891)AGA>ACA p.R297T CAMK2D_uc003ibj.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibk.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibo.3_Missense_Mutation_p.R297T|CAMK2D_uc003ibm.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibn.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibl.2_Missense_Mutation_p.R297T NM_001221 NP_001212 Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II 297 Calmodulin-binding (By similarity). interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) TAGTTTTCTTCTAGCATTAAA 0.353 NaN 0 0 0 0.000248 0 4 33 INPP4B 8821 broad.mit.edu 37 4 142949964 142949964 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:142949964C>G uc003iix.3 - 27 3341 c.2746G>C c.(2746-2748)GAG>CAG p.E916Q INPP4B_uc003iiw.3_Missense_Mutation_p.E916Q|INPP4B_uc011chm.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 916 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TAAGTCCCCTCTGGAGGTCTG 0.393 NaN 0 0 0 0.002522 0 40 17 DCLK2 166614 broad.mit.edu 37 4 151153948 151153948 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:151153948G>A uc003ilm.3 + 10 1634 c.1534G>A c.(1534-1536)GTG>ATG p.V512M DCLK2_uc003iln.3_Missense_Mutation_p.V511M|DCLK2_uc003ilo.3_Missense_Mutation_p.V529M|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 512 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) CCTCAGCATCGTGCACAGAGA 0.458 NaN 0 0 0 0.00361 0 93 67 DCHS2 54798 broad.mit.edu 37 4 155226351 155226351 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:155226351G>A uc003inw.2 - 16 3928 c.3928C>T c.(3928-3930)CCA>TCA p.P1310S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1310 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAAGCACCTGGCATGATTTCA 0.343 NaN 0 0 0 0.006122 0 17 15 C4orf27 54969 broad.mit.edu 37 4 170674911 170674911 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:170674911C>T uc003isl.3 - 2 189 c.124G>A c.(124-126)GAA>AAA p.E42K NM_017867 NP_060337 Q9NWY4 CD027_HUMAN hypothetical protein LOC54969 42 nucleus ovary(1)|pancreas(1) 2 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) TAATGATTTTCTACTTCTTTT 0.368 NaN 0 0 0 0.008871 0 21 12 FAT1 2195 broad.mit.edu 37 4 187525001 187525001 + Nonsense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:187525001G>C uc003izf.2 - 19 10867 c.10679C>G c.(10678-10680)TCA>TGA p.S3560* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3560 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GACGCCACCTGAGTATTCTTC 0.473 NaN HNSCC(5;0.00058) 0 0 0 0.008361 0 29 19 ADAMTS16 170690 broad.mit.edu 37 5 5182156 5182156 + Splice_Site SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:5182156G>T uc003jdl.2 + 4 640 c.502_splice c.e4-1 p.S168_splice ADAMTS16_uc003jdk.1_Splice_Site_p.S168_splice|ADAMTS16_uc003jdj.1_Splice_Site_p.S168_splice NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATTTTTTCCAGTCAGGCATGA 0.448 NaN 1 0 1.01871e-10 0.008871 1.87147e-10 19 69 DNAH5 1767 broad.mit.edu 37 5 13916475 13916475 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:13916475G>C uc003jfd.2 - 9 1221 c.1179C>G c.(1177-1179)ATC>ATG p.I393M DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 393 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ACAGAGATGTGATCTTCTCAG 0.303 NaN Kartagener_syndrome 0 0 0 0.00308 0 7 36 ANKH 56172 broad.mit.edu 37 5 14746024 14746024 + Silent SNP G G A rs111688928 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:14746024G>A uc003jfm.3 - 7 1201 c.870C>T c.(868-870)TAC>TAT p.Y290Y ANKH_uc003jfl.3_Silent_p.Y3Y NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 290 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 TCAACCAGCCGTATGGCATGT 0.522 NaN 0 0 0 0.008871 0 18 31 C5orf22 55322 broad.mit.edu 37 5 31535946 31535946 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:31535946G>C uc003jhj.3 + 3 450 c.323G>C c.(322-324)AGA>ACA p.R108T C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR NM_018356 NP_060826 Q49AR2 CE022_HUMAN hypothetical protein LOC55322 108 ovary(2) 2 CAGCAGATCAGAGAGGGCAGA 0.383 NaN 0 0 0 0.001855 0 13 37 UGT3A1 133688 broad.mit.edu 37 5 35954391 35954391 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:35954391G>A uc003jjv.1 - 7 1642 c.1485C>T c.(1483-1485)CTC>CTT p.L495L UGT3A1_uc003jjw.1_RNA NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 495 Helical; (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCCCAGAGTGAGCCCCAGCA 0.587 NaN 0 0 0 0.001168 0 5 27 SLC1A3 6507 broad.mit.edu 37 5 36671303 36671303 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:36671303G>A uc003jkj.3 + 4 968 c.492G>A c.(490-492)GTG>GTA p.V164V SLC1A3_uc011cox.1_Silent_p.V57V|SLC1A3_uc010iuy.2_Silent_p.V164V NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 164 Extracellular (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TTGTACGAGTGACAGCTGCAG 0.473 NaN 0 0 0 0.006214 0 9 23 C9 735 broad.mit.edu 37 5 39306727 39306727 + Missense_Mutation SNP T T C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:39306727T>C uc003jlv.3 - 9 1497 c.1408A>G c.(1408-1410)AGT>GGT p.S470G NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 470 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ACTTTTTGACTAATGAGAACA 0.363 NaN 0 0 0 0.007413 0 15 41 SSBP2 23635 broad.mit.edu 37 5 80911377 80911377 + Splice_Site SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:80911377C>G uc003kho.2 - 4 409 c.198_splice c.e4-1 p.C66_splice SSBP2_uc003khn.2_Splice_Site|SSBP2_uc003khp.2_Splice_Site_p.C66_splice|SSBP2_uc011ctp.1_Splice_Site_p.C66_splice|SSBP2_uc011ctq.1_Splice_Site_p.C66_splice|SSBP2_uc011ctr.1_Splice_Site_p.C66_splice NM_012446 NP_036578 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) haematopoietic_and_lymphoid_tissue(4)|skin(1) 5 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) CCAAAATACACTAAAAAAGTA 0.328 NaN 0 0 0 0.001882 0 23 25 GPR98 84059 broad.mit.edu 37 5 90049511 90049511 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:90049511G>C uc003kju.2 + 54 11338 c.11242G>C c.(11242-11244)GAG>CAG p.E3748Q GPR98_uc003kjt.2_Missense_Mutation_p.E1454Q|GPR98_uc003kjv.2_Missense_Mutation_p.E1348Q NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3748 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGAAGGGGTTGAGGACTCATA 0.448 NaN 0 0 0 0.001984 0 7 32 SLCO4C1 353189 broad.mit.edu 37 5 101596009 101596009 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:101596009G>C uc003knm.2 - 6 1323 c.1036C>G c.(1036-1038)CAA>GAA p.Q346E NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 346 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TTTCCAGCTTGAATTTCTGCT 0.209 NaN 0 0 0 0.00308 0 8 6 FBXL17 64839 broad.mit.edu 37 5 107216802 107216802 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:107216802C>T uc011cvc.1 - 8 2308 c.1901G>A c.(1900-1902)GGA>GAA p.G634E FBXL17_uc003kon.3_Missense_Mutation_p.G236E NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 634 0 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) CAGGGTGGCTCCTTGGTCTGT 0.453 NaN 0 0 0 0.001786 0 30 103 FER 2241 broad.mit.edu 37 5 108516519 108516519 + Missense_Mutation SNP G G A rs151332661 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:108516519G>A uc003kop.1 + 18 2504 c.2120G>A c.(2119-2121)CGT>CAT p.R707H FER_uc011cvg.1_Missense_Mutation_p.R532H NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 707 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GGAATGTCTCGTCAAGAGGAT 0.423 NaN 0 0 0 0.002299 0 23 62 IRF1 3659 broad.mit.edu 37 5 131819667 131819667 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:131819667G>C uc003kxa.2 - 10 1188 c.954C>G c.(952-954)ATC>ATG p.I318M C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.I318M NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 318 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) GAATGGCCTGGATGGAGGGCA 0.587 NaN 0 0 0 0.008291 0 10 25 PCDHGA6 56109 broad.mit.edu 37 5 140755384 140755384 + Silent SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:140755384G>C uc003ljy.1 + 1 1734 c.1734G>C c.(1732-1734)GCG>GCC p.A578A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A578A NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 578 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGCTGGCGCCCCGCTCCG 0.657 NaN 0 0 0 0.00361 0 46 108 PCDHGC5 56097 broad.mit.edu 37 5 140890566 140890566 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:140890566G>C uc003lla.1 + 4 2661 c.2661G>C c.(2659-2661)TTG>TTC p.L887F PCDHGA1_uc003lji.1_Missense_Mutation_p.L874F|PCDHGA2_uc003ljk.1_Missense_Mutation_p.L875F|PCDHGA3_uc003ljm.1_Missense_Mutation_p.L875F|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L635F|PCDHGB1_uc003ljo.1_Missense_Mutation_p.L870F|PCDHGA4_uc003ljq.1_Missense_Mutation_p.L874F|PCDHGB2_uc003ljs.1_Missense_Mutation_p.L874F|PCDHGA5_uc003lju.1_Missense_Mutation_p.L874F|PCDHGB3_uc003ljw.1_Missense_Mutation_p.L872F|PCDHGA6_uc003ljy.1_Missense_Mutation_p.L875F|PCDHGA7_uc003lka.1_Missense_Mutation_p.L875F|PCDHGB4_uc003lkc.1_Missense_Mutation_p.L866F|PCDHGA8_uc003lkd.1_Missense_Mutation_p.L875F|PCDHGB5_uc003lkf.1_Missense_Mutation_p.L866F|PCDHGA9_uc003lkh.1_Missense_Mutation_p.L875F|PCDHGB6_uc003lkj.1_Missense_Mutation_p.L873F|PCDHGA10_uc003lkl.1_Missense_Mutation_p.L879F|PCDHGB7_uc003lkn.1_Missense_Mutation_p.L872F|PCDHGA11_uc003lkp.1_Missense_Mutation_p.L693F|PCDHGA11_uc003lkq.1_Missense_Mutation_p.L878F|PCDHGA12_uc003lkt.1_Missense_Mutation_p.L875F|PCDHGC3_uc003lkv.1_Missense_Mutation_p.L877F|PCDHGC3_uc003lkw.1_Missense_Mutation_p.L77F|PCDHGC4_uc003lky.1_Missense_Mutation_p.L881F NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 887 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGGGATTGAGCGCCCGCT 0.612 NaN 0 0 0 0.00623 0 37 129 AFAP1L1 134265 broad.mit.edu 37 5 148709287 148709287 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr5:148709287G>T uc003lqh.2 + 16 2000 c.1869G>T c.(1867-1869)TTG>TTT p.L623F AFAP1L1_uc010jgy.2_Missense_Mutation_p.L623F|AFAP1L1_uc003lqi.1_Missense_Mutation_p.L238F NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 623 Potential. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGTACTTGGTAGAAAAAG 0.498 NaN 1 0 7.03913e-09 0.001368 1.27715e-08 10 23 JARID2 3720 broad.mit.edu 37 6 15496706 15496706 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:15496706C>T uc003nbj.2 + 7 1494 c.1250C>T c.(1249-1251)TCA>TTA p.S417L JARID2_uc011diu.1_Missense_Mutation_p.S281L|JARID2_uc011div.1_Missense_Mutation_p.S245L|JARID2_uc011diw.1_Missense_Mutation_p.S379L NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 417 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AACCCAAAGTCATGCACTAAG 0.652 NaN 0 0 0 0.00499 0 16 47 LY6G6F 259215 broad.mit.edu 37 6 31685471 31685471 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:31685471C>G uc003nwb.1 + 6 1039 c.1039C>G c.(1039-1041)CTG>GTG p.L347V LY6G6D_uc003nwf.1_Missense_Mutation_p.L98V|LY6G6D_uc003nwg.1_Missense_Mutation_p.L77V NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor Error:Variant_position_missing_in_Q5SQ64_after_alignment integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 GGACTGCTACCTGGGAGACCT 0.597 NaN 0 0 0 0.005524 0 39 109 RPS18 6222 broad.mit.edu 37 6 33243622 33243622 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:33243622G>A uc003odp.1 + 3 196 c.151G>A c.(151-153)GAC>AAC p.D51N RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN ribosomal protein S18 51 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome 0 AGCAGACATTGACCTCACCAA 0.512 NaN 0 0 0 0.006999 0 36 82 FTSJD2 23070 broad.mit.edu 37 6 37414099 37414099 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:37414099G>T uc003ons.2 + 4 571 c.318G>T c.(316-318)TTG>TTT p.L106F FTSJD2_uc010jwu.2_Missense_Mutation_p.L106F NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 106 G-patch. mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GTGAAGGATTGGGTAAATACA 0.433 NaN 1 0 0.000673444 0.008291 0.00116149 10 161 UBE2J1 51465 broad.mit.edu 37 6 90039588 90039588 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:90039588C>T uc010kcb.2 - 9 940 c.767G>A c.(766-768)CGG>CAG p.R256Q UBE2J1_uc003pnc.2_Missense_Mutation_p.R256Q NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 256 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CTGCTGGGCCCGGCGCTGTCG 0.517 NaN 0 0 0 0.003163 0 15 40 MDN1 23195 broad.mit.edu 37 6 90394614 90394614 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:90394614G>A uc003pnn.1 - 71 11926 c.11810C>T c.(11809-11811)CCC>CTC p.P3937L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3937 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTTCTAGGGGGGAACGAAG 0.388 NaN 0 0 0 0.00245 0 13 30 C6orf167 253714 broad.mit.edu 37 6 97634396 97634396 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:97634396G>A uc003ppb.2 - 15 2476 c.2210C>T c.(2209-2211)TCA>TTA p.S737L C6orf167_uc011eaf.1_Missense_Mutation_p.S697L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 737 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) CGCAAGTTGTGAGAAAGGCAC 0.403 NaN 0 0 0 0.006214 0 9 21 FYN 2534 broad.mit.edu 37 6 112035566 112035566 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:112035566G>C uc003pvj.2 - 4 668 c.328C>G c.(328-330)CAA>GAA p.Q110E FYN_uc003pvi.2_Missense_Mutation_p.Q110E|FYN_uc003pvk.2_Missense_Mutation_p.Q110E|FYN_uc003pvh.2_Missense_Mutation_p.Q110E NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 110 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAATATTTGAAATTTTTCT 0.438 NaN 0 0 0 0.004482 0 6 33 ROS1 6098 broad.mit.edu 37 6 117662723 117662723 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:117662723G>C uc003pxp.1 - 29 4941 c.4742C>G c.(4741-4743)TCT>TGT p.S1581C ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1581 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGGCTTGTGAGATTCTCTCCA 0.423 NaN T GOPC|ROS1 glioblastoma|NSCLC 0 0 0 0.00308 0 8 31 GRM1 2911 broad.mit.edu 37 6 146708053 146708053 + Missense_Mutation SNP T T A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:146708053T>A uc010khw.1 + 7 2100 c.1630T>A c.(1630-1632)TGC>AGC p.C544S GRM1_uc010khv.1_Missense_Mutation_p.C544S|GRM1_uc003qll.2_Missense_Mutation_p.C544S|GRM1_uc011edz.1_Missense_Mutation_p.C544S|GRM1_uc011eea.1_Missense_Mutation_p.C544S NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 544 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGTGAGCTGCTGCTGGATTTG 0.408 NaN 0 0 0 0.001984 0 6 21 MTHFD1L 25902 broad.mit.edu 37 6 151203955 151203955 + Nonsense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:151203955C>T uc003qob.2 + 5 743 c.475C>T c.(475-477)CAG>TAG p.Q159* MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.Q159*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.Q106*|MTHFD1L_uc003qoa.1_Nonsense_Mutation_p.Q159*|MTHFD1L_uc010kil.1_RNA NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 159 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) CCTTGCCCTTCAGATCTCTGA 0.308 NaN 0 0 0 0.000978 0 11 36 ZBTB2 57621 broad.mit.edu 37 6 151687786 151687786 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:151687786C>T uc003qoh.2 - 3 550 c.415G>A c.(415-417)GAT>AAT p.D139N NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) AACTGATGATCTGCAATCTGA 0.547 NaN 0 0 0 0.008361 0 32 67 ZDHHC14 79683 broad.mit.edu 37 6 158074650 158074650 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:158074650G>A uc003qqt.2 + 8 1556 c.1059G>A c.(1057-1059)CAG>CAA p.Q353Q ZDHHC14_uc003qqs.2_Silent_p.Q353Q|ZDHHC14_uc010kjn.2_Silent_p.Q8Q NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 353 integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CGCAGTCACAGAGTGACATGG 0.607 NaN 0 0 0 0.001368 0 12 30 SYTL3 94120 broad.mit.edu 37 6 159166530 159166530 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:159166530G>C uc003qrp.2 + 11 1118 c.874G>C c.(874-876)GAC>CAC p.D292H SYTL3_uc011efp.1_Missense_Mutation_p.D292H|SYTL3_uc003qro.2_Missense_Mutation_p.D224H|SYTL3_uc003qrq.2_Missense_Mutation_p.D224H|SYTL3_uc003qrr.2_Missense_Mutation_p.D292H|SYTL3_uc003qrs.2_Missense_Mutation_p.D224H|SYTL3_uc011efq.1_Missense_Mutation_p.D18H NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 292 intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) AATTAGCATTGACAGCACCTG 0.323 NaN 0 0 0 0.00308 0 7 21 SYTL3 94120 broad.mit.edu 37 6 159166673 159166673 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:159166673G>C uc003qrp.2 + 11 1261 c.1017G>C c.(1015-1017)AAG>AAC p.K339N SYTL3_uc011efp.1_Missense_Mutation_p.K339N|SYTL3_uc003qro.2_Missense_Mutation_p.K271N|SYTL3_uc003qrq.2_Missense_Mutation_p.K271N|SYTL3_uc003qrr.2_Missense_Mutation_p.K339N|SYTL3_uc003qrs.2_Missense_Mutation_p.K271N|SYTL3_uc011efq.1_Missense_Mutation_p.K65N NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 339 C2 1. intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) GAGAAGAAAAGAAGAAAAAGT 0.244 NaN 0 0 0 0.004482 0 7 31 WTAP 9589 broad.mit.edu 37 6 160169273 160169273 + Silent SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:160169273G>C uc003qsl.2 + 6 546 c.324G>C c.(322-324)CTG>CTC p.L108L WTAP_uc010kjx.2_Silent_p.L108L|WTAP_uc003qsk.2_Silent_p.L108L|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Silent_p.L108L NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 108 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TTGCCCAACTGAGATCAACAA 0.418 NaN 0 0 0 0.00245 0 12 39 MACC1 346389 broad.mit.edu 37 7 20199869 20199869 + Splice_Site SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:20199869C>T uc003sus.3 - 5 425 c.116_splice c.e5-1 p.E39_splice MACC1_uc010kug.2_Splice_Site_p.E39_splice NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 TCCTGGCATTCTTGTTATTTA 0.388 NaN 0 0 0 0.001368 0 13 29 TRA2A 29896 broad.mit.edu 37 7 23571441 23571441 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:23571441C>T uc003swi.2 - 1 217 c.3G>A c.(1-3)ATG>ATA p.M1I TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 1 nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 CCACATCACTCATGTCGACGA 0.582 NaN 0 0 0 0.001882 0 19 40 NEUROD6 63974 broad.mit.edu 37 7 31378699 31378699 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:31378699C>T uc003tch.2 - 2 537 c.184G>A c.(184-186)GAG>AAG p.E62K NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 62 Poly-Glu. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 ctgtcttcctcctcttcttct 0.323 NaN 0 0 0 0.00361 0 54 83 NEUROD6 63974 broad.mit.edu 37 7 31378712 31378712 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:31378712C>T uc003tch.2 - 2 524 c.171G>A c.(169-171)GAG>GAA p.E57E NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 57 Poly-Glu. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 cttcttctttctcggtttctt 0.323 NaN 0 0 0 0.00361 0 58 80 AMPH 273 broad.mit.edu 37 7 38431490 38431490 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:38431490G>A uc003tgu.2 - 19 1806 c.1737C>T c.(1735-1737)AGC>AGT p.S579S AMPH_uc003tgv.2_Silent_p.S537S|AMPH_uc003tgt.2_Silent_p.S464S|AMPH_uc003tgw.1_Silent_p.S602S|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 579 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CCGGTGTCTCGCTGGTGGGGC 0.612 NaN 0 0 0 0.001855 0 13 25 ZNF479 90827 broad.mit.edu 37 7 57193755 57193755 + Nonsense_Mutation SNP T T A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:57193755T>A uc010kzo.2 - 4 503 c.232A>T c.(232-234)AAG>TAG p.K78* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TCATTTCTCTTTATATTCTGG 0.408 NaN 0 0 0 0.003755 0 29 90 HIP1 3092 broad.mit.edu 37 7 75190635 75190635 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:75190635C>G uc003uds.1 - 13 1230 c.1189G>C c.(1189-1191)GAG>CAG p.E397Q HIP1_uc011kfz.1_Missense_Mutation_p.E274Q NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 397 Potential. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 AGTTATACCTCAGTCTTCATG 0.378 NaN T PDGFRB CMML 0 0 0 0.006999 0 39 125 PION 54103 broad.mit.edu 37 7 76982908 76982908 + Silent SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:76982908G>T uc003ugf.2 - 17 1468 c.1389C>A c.(1387-1389)CTC>CTA p.L463L PION_uc003ugg.1_Silent_p.L248L NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 463 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 ATTCCTGAATGAGGTCAAATG 0.373 NaN 1 0 6.72482e-11 0.003163 1.23852e-10 15 41 PCLO 27445 broad.mit.edu 37 7 82390090 82390090 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:82390090C>G uc003uhx.2 - 24 15442 c.15153G>C c.(15151-15153)GTG>GTC p.V5051V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4974 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CATATATTTTCACATATAAAT 0.284 NaN 0 0 0 0.000248 0 4 9 KIAA1324L 222223 broad.mit.edu 37 7 86548627 86548627 + Splice_Site SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:86548627C>T uc011kha.1 - 11 1585 c.1400_splice c.e11-1 p.G467_splice KIAA1324L_uc003uif.1_Splice_Site_p.G227_splice|KIAA1324L_uc011kgz.1_Splice_Site_p.G353_splice|KIAA1324L_uc003uie.2_Splice_Site_p.G300_splice NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) ACCTCCCAACCTAGAAGTAAT 0.333 NaN 0 0 0 0.000978 0 11 15 C7orf63 79846 broad.mit.edu 37 7 89887468 89887468 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:89887468G>A uc010lep.2 + 3 488 c.237G>A c.(235-237)CAG>CAA p.Q79Q C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Silent_p.Q79Q|C7orf63_uc010leo.2_Silent_p.Q79Q NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 79 binding ovary(1) 1 AGTGTTATCAGAATGGACTTG 0.244 NaN 0 0 0 0.008291 0 11 25 CASD1 64921 broad.mit.edu 37 7 94175012 94175012 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:94175012C>T uc003uni.3 + 12 1859 c.1632C>T c.(1630-1632)AAC>AAT p.N544N CASD1_uc003unj.3_Silent_p.N544N NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 544 integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AAAAAGCAAACGGTAAATATA 0.284 NaN 0 0 0 0.006214 0 10 16 LMTK2 22853 broad.mit.edu 37 7 97821646 97821646 + Silent SNP C C T rs141759251 TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:97821646C>T uc003upd.1 + 11 2162 c.1869C>T c.(1867-1869)CAC>CAT p.H623H NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 623 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GGGACTTACACGTGACCAGTG 0.468 NaN 0 0 0 0.00499 0 17 48 ZNF655 79027 broad.mit.edu 37 7 99158255 99158255 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:99158255G>C uc003urh.2 + 2 466 c.73G>C c.(73-75)GAG>CAG p.E25Q FAM200A_uc003urb.2_5'Flank|ZNF655_uc003urf.2_RNA|ZNF655_uc003urc.2_Missense_Mutation_p.E25Q|ZNF655_uc010lfz.2_Missense_Mutation_p.E25Q|ZNF655_uc003ure.2_RNA|ZNF655_uc010lga.2_Missense_Mutation_p.E25Q|ZNF655_uc010lgb.2_Missense_Mutation_p.E25Q|ZNF655_uc003uri.2_Missense_Mutation_p.E25Q|ZNF655_uc010lgc.2_Missense_Mutation_p.E25Q|ZNF655_uc003urj.2_Missense_Mutation_p.E25Q NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 25 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GACCCAGTCTGAGTGTCTGTC 0.562 NaN 0 0 0 0.00333 0 22 49 CTTNBP2 83992 broad.mit.edu 37 7 117431626 117431626 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:117431626G>A uc003vjf.2 - 4 1716 c.1624C>T c.(1624-1626)CCT>TCT p.P542S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 542 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ATAGGAGGAGGATTTCCTCTG 0.547 NaN 0 0 0 0.005524 0 38 104 CTTNBP2 83992 broad.mit.edu 37 7 117450981 117450981 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:117450981G>C uc003vjf.2 - 3 344 c.252C>G c.(250-252)TTC>TTG p.F84L NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 84 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGAGTGCCAGGAACGGGTCAT 0.458 NaN 0 0 0 0.007413 0 19 57 FLNC 2318 broad.mit.edu 37 7 128489029 128489029 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:128489029C>T uc003vnz.3 + 28 5129 c.4920C>T c.(4918-4920)CTC>CTT p.L1640L FLNC_uc003voa.3_Silent_p.L1640L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1640 Filamin 15. L -> T (in Ref. 9; CAA49689). cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCAAGTGCCTCGTCACAGGTG 0.657 NaN 0 0 0 0.002096 0 28 54 TNPO3 23534 broad.mit.edu 37 7 128614995 128614995 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:128614995G>C uc003vol.1 - 18 2574 c.2200C>G c.(2200-2202)CAG>GAG p.Q734E TNPO3_uc010llx.1_Missense_Mutation_p.Q145E|TNPO3_uc003vom.1_Missense_Mutation_p.Q668E|TNPO3_uc010lly.1_Missense_Mutation_p.Q768E|TNPO3_uc010llz.1_Missense_Mutation_p.Q670E NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 734 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 TCTAGGAGCTGAAAGGTGGGG 0.428 NaN 0 0 0 0.002299 0 21 50 TSGA14 95681 broad.mit.edu 37 7 130038848 130038848 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:130038848C>G uc003vpz.2 - 11 1053 c.1006G>C c.(1006-1008)GAG>CAG p.E336Q TSGA14_uc003vpy.2_Missense_Mutation_p.E98Q|TSGA14_uc010lmf.2_Missense_Mutation_p.E133Q|TSGA14_uc003vqa.2_Missense_Mutation_p.E264Q|TSGA14_uc011kpg.1_Missense_Mutation_p.E248Q NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 336 G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) ACCTTGGACTCTCTTCCGGAG 0.587 NaN 0 0 0 0.00361 0 53 128 MLL3 58508 broad.mit.edu 37 7 151846037 151846037 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr7:151846037C>T uc003wla.2 - 52 13194 c.12975G>A c.(12973-12975)CTG>CTA p.L4325L MLL3_uc003wkz.2_Silent_p.L3443L|MLL3_uc003wkx.2_Silent_p.L483L|MLL3_uc003wky.2_Silent_p.L1889L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4325 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTGTCACCTTCAGCTCATCTG 0.542 NaN N medulloblastoma 0 0 0 0.000602 0 5 25 ST18 9705 broad.mit.edu 37 8 53084872 53084872 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:53084872C>T uc003xqz.2 - 5 705 c.549G>A c.(547-549)CAG>CAA p.Q183Q ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.Q148Q|ST18_uc011lds.1_Silent_p.Q88Q|ST18_uc003xra.2_Silent_p.Q183Q|ST18_uc003xrb.2_Silent_p.Q183Q NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 183 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGAAGGGTGGCTGAGAATCAT 0.448 NaN 0 0 0 0.007291 0 31 74 ARFGEF1 10565 broad.mit.edu 37 8 68112663 68112663 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:68112663G>A uc003xxo.1 - 38 5743 c.5353C>T c.(5353-5355)CTA>TTA p.L1785L ARFGEF1_uc003xxl.1_Silent_p.L1239L|ARFGEF1_uc003xxm.1_Silent_p.L188L|ARFGEF1_uc003xxn.1_Silent_p.L730L|ARFGEF1_uc003xxp.1_Silent_p.L47L NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1785 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) ACTTTAGTTAGAAACAAAAGC 0.433 NaN 0 0 0 0.003163 0 15 47 PREX2 80243 broad.mit.edu 37 8 69030845 69030845 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:69030845C>T uc003xxv.1 + 27 3414 c.3387C>T c.(3385-3387)TGC>TGT p.C1129C NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1129 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GCAGCCAGTGCAGCTCGTATT 0.448 NaN 0 0 0 0.002445 0 31 71 LRRCC1 85444 broad.mit.edu 37 8 86041588 86041588 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:86041588C>A uc003ycw.2 + 10 1754 c.1600C>A c.(1600-1602)CAA>AAA p.Q534K LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.Q235K|LRRCC1_uc003ycx.2_Missense_Mutation_p.Q441K|LRRCC1_uc003ycy.2_Missense_Mutation_p.Q514K NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 534 Potential. cell division|mitosis centriole|nucleus 0 AATGGAGAGACAAAAAAGGCA 0.328 NaN 1 0 3.69857e-22 0.008361 7.00529e-22 28 84 KCNQ3 3786 broad.mit.edu 37 8 133153445 133153445 + Missense_Mutation SNP A A C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:133153445A>C uc003ytj.2 - 10 1621 c.1396T>G c.(1396-1398)TTA>GTA p.L466V KCNQ3_uc010mdt.2_Missense_Mutation_p.L466V NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 466 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTATTGTTTAAGCCAACAGGC 0.443 NaN 0 0 0 0.002836 0 30 78 PTP4A3 11156 broad.mit.edu 37 8 142437047 142437047 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:142437047G>A uc003ywg.1 + 3 541 c.207G>A c.(205-207)CCG>CCA p.P69P PTP4A3_uc003ywh.1_Silent_p.P69P|PTP4A3_uc010met.1_Intron NM_032611 NP_116000 O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 69 early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) AGGACTGGCCGTTTGACGATG 0.672 NaN 0 0 0 0.00361 0 61 100 FAM83H 286077 broad.mit.edu 37 8 144808670 144808670 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:144808670G>A uc003yzk.2 - 5 3030 c.2961C>T c.(2959-2961)TTC>TTT p.F987F FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 987 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCGGCACTGGGAAGCCACCCT 0.697 NaN 0 0 0 0.000602 0 4 20 PLEC 5339 broad.mit.edu 37 8 144991585 144991585 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:144991585G>T uc003zaf.1 - 32 12985 c.12815C>A c.(12814-12816)TCC>TAC p.S4272Y PLEC_uc003zab.1_Missense_Mutation_p.S4135Y|PLEC_uc003zac.1_Missense_Mutation_p.S4139Y|PLEC_uc003zad.2_Missense_Mutation_p.S4135Y|PLEC_uc003zae.1_Missense_Mutation_p.S4103Y|PLEC_uc003zag.1_Missense_Mutation_p.S4113Y|PLEC_uc003zah.2_Missense_Mutation_p.S4121Y|PLEC_uc003zaj.2_Missense_Mutation_p.S4162Y NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4272 Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CTTGCGCACGGAGGACTTGGA 0.617 NaN 1 0 1.15088e-07 0.004007 2.06763e-07 16 34 PLEC 5339 broad.mit.edu 37 8 145002057 145002057 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr8:145002057G>C uc003zaf.1 - 26 3945 c.3775C>G c.(3775-3777)CTC>GTC p.L1259V PLEC_uc003zab.1_Missense_Mutation_p.L1122V|PLEC_uc003zac.1_Missense_Mutation_p.L1126V|PLEC_uc003zad.2_Missense_Mutation_p.L1122V|PLEC_uc003zae.1_Missense_Mutation_p.L1090V|PLEC_uc003zag.1_Missense_Mutation_p.L1100V|PLEC_uc003zah.2_Missense_Mutation_p.L1108V|PLEC_uc003zaj.2_Missense_Mutation_p.L1149V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1259 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGCTCCGGGAGGGTGGCCGGC 0.692 NaN 0 0 0 0.000602 0 4 5 DOCK8 81704 broad.mit.edu 37 9 328082 328082 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:328082C>T uc003zgf.2 + 9 1067 c.955C>T c.(955-957)CAC>TAC p.H319Y DOCK8_uc011lls.1_Missense_Mutation_p.H319Y|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.H251Y|DOCK8_uc003zgg.2_Missense_Mutation_p.H251Y|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 319 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TCTGCGAGCTCACACGCCTTC 0.458 NaN 0 0 0 0.000978 0 12 71 RRAGA 10670 broad.mit.edu 37 9 19050318 19050318 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:19050318G>C uc003znj.2 + 1 947 c.661G>C c.(661-663)GAG>CAG p.E221Q NM_006570 NP_006561 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 221 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity 0 CCAGTGCAAAGAGCAGCGCGA 0.478 NaN 0 0 0 0.006999 0 36 117 RUSC2 9853 broad.mit.edu 37 9 35561306 35561306 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:35561306C>T uc003zww.2 + 12 4733 c.4478C>T c.(4477-4479)TCT>TTT p.S1493F RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.S1493F NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1493 SH3. cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GGCCCCGACTCTGGCCTGGTG 0.647 NaN 0 0 0 0.007291 0 25 87 RECK 8434 broad.mit.edu 37 9 36110040 36110040 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:36110040G>A uc003zyv.2 + 15 1938 c.1852G>A c.(1852-1854)GAG>AAG p.E618K RECK_uc003zyw.2_Missense_Mutation_p.E490K|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 618 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TTGCCTCAGTGAGCACAGTTC 0.478 NaN 0 0 0 0.002096 0 34 122 CEP78 84131 broad.mit.edu 37 9 80881596 80881596 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:80881596C>G uc004akx.2 + 15 2312 c.2036C>G c.(2035-2037)TCT>TGT p.S679C CEP78_uc004aky.3_Missense_Mutation_p.S696C|CEP78_uc010mpp.2_Missense_Mutation_p.S680C|CEP78_uc004akz.1_Missense_Mutation_p.S167C NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 679 G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 AGCAGATCTTCTTCAGAGAAA 0.418 NaN 0 0 0 0.001984 0 5 19 TLE4 7091 broad.mit.edu 37 9 82335206 82335206 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:82335206G>A uc004ald.2 + 17 2760 c.1911G>A c.(1909-1911)GTG>GTA p.V637V TLE4_uc004alc.2_Silent_p.V612V|TLE4_uc010mpr.2_Silent_p.V491V|TLE4_uc004ale.2_Silent_p.V249V|TLE4_uc011lsq.1_Silent_p.V580V|TLE4_uc010mps.2_Silent_p.V536V|TLE4_uc004alf.2_Silent_p.V551V NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 AGACCTTGGTGAGGTAGGTTA 0.458 NaN 0 0 0 0.000978 0 12 40 BICD2 23299 broad.mit.edu 37 9 95482616 95482616 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:95482616G>C uc004aso.1 - 4 1085 c.1028C>G c.(1027-1029)TCT>TGT p.S343C BICD2_uc004asp.1_Missense_Mutation_p.S343C NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 343 Potential. microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 CTGGATCTCAGAGATGTTGAG 0.632 NaN 0 0 0 0.007291 0 29 38 BICD2 23299 broad.mit.edu 37 9 95482948 95482948 + Silent SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:95482948G>T uc004aso.1 - 4 753 c.696C>A c.(694-696)CTC>CTA p.L232L BICD2_uc004asp.1_Silent_p.L232L NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 232 Potential. microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 AGATCTCCTTGAGGCGGATGG 0.587 NaN 1 0 1.06522e-23 0.003214 2.02807e-23 44 63 GABBR2 9568 broad.mit.edu 37 9 101125057 101125057 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:101125057G>C uc004ays.2 - 13 1989 c.1833C>G c.(1831-1833)ATC>ATG p.I611M NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 611 Helical; Name=4; (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AGCAGATCAGGATACACAGGT 0.592 NaN 0 0 0 0.00308 0 8 34 TEX10 54881 broad.mit.edu 37 9 103092428 103092428 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:103092428G>C uc004bas.2 - 6 1489 c.1274C>G c.(1273-1275)TCC>TGC p.S425C TEX10_uc011lvf.1_Missense_Mutation_p.S264C|TEX10_uc011lvg.1_Missense_Mutation_p.S428C|TEX10_uc011lvh.1_Missense_Mutation_p.S360C NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 425 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TATGTTATTGGAGAGAACTGT 0.373 NaN 0 0 0 0.002522 0 38 95 OR13C3 138803 broad.mit.edu 37 9 107298443 107298443 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:107298443C>A uc004bcb.1 - 1 652 c.652G>T c.(652-654)GCC>TCC p.A218S NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 218 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 TCAGCACAGGCCAGCTTGAGG 0.383 NaN 1 0 2.44723e-14 0.004656 4.56443e-14 26 76 SNX30 401548 broad.mit.edu 37 9 115567234 115567234 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:115567234G>C uc004bgj.3 + 2 483 c.335G>C c.(334-336)AGG>ACG p.R112T NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 112 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding 0 ATCACCTATAGGATCACCACC 0.458 NaN 0 0 0 0.004878 0 31 84 SLC46A2 57864 broad.mit.edu 37 9 115652749 115652749 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:115652749C>G uc004bgk.2 - 1 445 c.213G>C c.(211-213)CAG>CAC p.Q71H NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 71 Extracellular (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 AGATGGCTCTCTGCTGTTGGT 0.632 NaN 0 0 0 0.00361 0 79 99 AKNA 80709 broad.mit.edu 37 9 117122258 117122258 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:117122258C>G uc004biq.3 - 9 2344 c.2209G>C c.(2209-2211)GAG>CAG p.E737Q AKNA_uc004bin.3_5'UTR|AKNA_uc004bio.3_Missense_Mutation_p.E197Q|AKNA_uc004bip.3_Missense_Mutation_p.E656Q|AKNA_uc004bir.3_Missense_Mutation_p.E737Q|AKNA_uc004bis.3_Missense_Mutation_p.E737Q|AKNA_uc010mve.2_Missense_Mutation_p.E618Q|AKNA_uc004biu.1_Missense_Mutation_p.E478Q|AKNA_uc004biv.1_Missense_Mutation_p.E737Q NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 737 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 GGCCTGTCCTCCACCTCACTG 0.622 NaN 0 0 0 0.000978 0 12 53 MEGF9 1955 broad.mit.edu 37 9 123476225 123476225 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:123476225G>C uc004bkj.1 - 1 388 c.388C>G c.(388-390)CAG>GAG p.Q130E MEGF9_uc011lyb.1_Missense_Mutation_p.Q130E|MEGF9_uc004bkk.3_Missense_Mutation_p.Q130E NM_001080497 NP_001073966 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 138 Extracellular (Potential).|Pro-rich. integral to membrane calcium ion binding 0 GTCGGCGCCTGAGAGGTGGTC 0.721 NaN 0 0 0 0.008871 0 18 30 CRB2 286204 broad.mit.edu 37 9 126128232 126128232 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:126128232C>T uc004bnx.1 + 3 547 c.455C>T c.(454-456)TCA>TTA p.S152L CRB2_uc004bnw.1_Missense_Mutation_p.S152L NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 152 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GAGTGCGCCTCAGCGCCCTGC 0.706 NaN 0 0 0 0.004007 0 11 22 DNM1 1759 broad.mit.edu 37 9 130984548 130984548 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:130984548G>C uc011mau.1 + 7 1009 c.922G>C c.(922-924)GAG>CAG p.E308Q DNM1_uc010mxr.2_Missense_Mutation_p.E308Q|DNM1_uc011mat.1_Missense_Mutation_p.E308Q NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 308 receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 ACTGTCCATTGAGAAGGAGGT 0.582 NaN 0 0 0 0.001523 0 19 66 SLC27A4 10999 broad.mit.edu 37 9 131115460 131115460 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:131115460G>C uc004but.2 + 8 1428 c.1144G>C c.(1144-1146)GAG>CAG p.E382Q SLC27A4_uc004buu.2_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 382 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 CCAGGTGGCTGAGTTCTACGG 0.622 NaN 0 0 0 0.003163 0 15 42 ZER1 10444 broad.mit.edu 37 9 131504959 131504959 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:131504959G>A uc004bwa.1 - 9 1858 c.1425C>T c.(1423-1425)TAC>TAT p.Y475Y NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 475 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 TGACCCGGCGGTACTGGAATT 0.632 NaN 0 0 0 0.001855 0 12 18 ARSD 414 broad.mit.edu 37 X 2836237 2836237 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:2836237G>A uc004cqy.2 - 5 547 c.471C>T c.(469-471)TCC>TCT p.S157S ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Silent_p.S157S NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 157 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GATCCCCGCGGGATGCACAAT 0.557 NaN 0 0 0 0.004672 0 3 6 APOO 79135 broad.mit.edu 37 X 23898967 23898967 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:23898967C>T uc004dax.2 - 2 343 c.112G>A c.(112-114)GAT>AAT p.D38N APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA NM_024122 NP_077027 Q9BUR5 APOO_HUMAN apolipoprotein O precursor 38 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle 0 GTTACCTCATCAACCTTCACG 0.413 NaN 0 0 0 0.006214 0 10 35 DCAF8L2 347442 broad.mit.edu 37 X 27766328 27766328 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:27766328C>G uc011mjy.1 + 1 1403 c.1316C>G c.(1315-1317)GCC>GGC p.A439G NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 GAGCTGCTAGCCAGCTACAAT 0.443 NaN 0 0 0 0.001882 0 21 37 FAM47A 158724 broad.mit.edu 37 X 34149301 34149301 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:34149301C>T uc004ddg.2 - 1 1128 c.1095G>A c.(1093-1095)GCG>GCA p.A365A NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 365 ovary(4)|central_nervous_system(1) 5 TCTTGGGAGGCGCTAGGCGGA 0.632 NaN 0 0 0 0.00245 0 15 26 FAM47B 170062 broad.mit.edu 37 X 34962542 34962542 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:34962542C>T uc004ddi.1 + 1 1612 c.1594C>T c.(1594-1596)CGC>TGC p.R532C NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 532 ovary(3)|breast(1) 4 GGACAGGAGACGCCGGGCGGC 0.498 NaN 0 0 0 0.002445 0 32 74 CXorf22 170063 broad.mit.edu 37 X 35974113 35974113 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:35974113G>A uc004ddj.2 + 8 1269 c.1210G>A c.(1210-1212)GGC>AGC p.G404S CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 404 large_intestine(1)|lung(1)|ovary(1) 3 AGCACTGACAGGCACAGGACT 0.363 NaN 0 0 0 0.00333 0 21 69 SHROOM4 57477 broad.mit.edu 37 X 50339780 50339780 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:50339780C>G uc004dpe.2 - 9 4423 c.4397G>C c.(4396-4398)CGA>CCA p.R1466P SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 1466 Potential.|ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) CTCCAGCTCTCGCTGTTCAAT 0.502 NaN 0 0 0 0.005443 0 26 33 SPANXN5 494197 broad.mit.edu 37 X 52825556 52825556 + Nonsense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:52825556G>C uc004drc.1 - 2 191 c.191C>G c.(190-192)TCA>TGA p.S64* NM_001009616 NP_001009616 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 64 0 Ovarian(276;0.236) CAGTTGATTTGAATGTATTTT 0.423 NaN 0 0 0 0.00623 0 37 95 ITIH5L 347365 broad.mit.edu 37 X 54777522 54777522 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:54777522C>A uc004dtj.2 - 12 3674 c.3644G>T c.(3643-3645)AGG>ATG p.R1215M NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 1215 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ACTGGGATGCCTGTAGCGGTG 0.627 NaN 1 0 3.59834e-05 0.001168 6.32513e-05 6 12 FAM123B 139285 broad.mit.edu 37 X 63412575 63412575 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:63412575C>T uc004dvo.2 - 2 865 c.592G>A c.(592-594)GAG>AAG p.E198K NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 198 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CTGACCCTCTCAGGCCCCTTG 0.577 NaN 0 0 0 0.006122 0 18 71 MTMR8 55613 broad.mit.edu 37 X 63488786 63488786 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:63488786C>G uc004dvs.2 - 14 1814 c.1746G>C c.(1744-1746)CTG>CTC p.L582L MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 582 nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 CATTCTCCATCAGGGTATTCA 0.483 NaN 0 0 0 0.00278 0 22 28 ZMYM3 9203 broad.mit.edu 37 X 70471043 70471043 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:70471043C>G uc004dzh.1 - 4 850 c.763G>C c.(763-765)GAT>CAT p.D255H BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.D255H|ZMYM3_uc004dzj.1_Missense_Mutation_p.D255H|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Missense_Mutation_p.D255H|ZMYM3_uc004dzl.3_Missense_Mutation_p.D255H|ZMYM3_uc004dzm.3_Missense_Mutation_p.D255H NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 255 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TCAGTGGAATCTACAACCTCA 0.537 NaN 0 0 0 0.006122 0 14 61 ZMYM3 9203 broad.mit.edu 37 X 70471052 70471052 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:70471052C>T uc004dzh.1 - 4 841 c.754G>A c.(754-756)GAG>AAG p.E252K BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E252K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E252K|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Missense_Mutation_p.E252K|ZMYM3_uc004dzl.3_Missense_Mutation_p.E252K|ZMYM3_uc004dzm.3_Missense_Mutation_p.E252K NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 252 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TCTACAACCTCAGGTTTTGGA 0.532 NaN 0 0 0 0.008871 0 14 59 OGT 8473 broad.mit.edu 37 X 70787373 70787373 + Silent SNP T T C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:70787373T>C uc004eaa.1 + 20 2830 c.2613T>C c.(2611-2613)AGT>AGC p.S871S BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.S861S|OGT_uc004eac.2_Silent_p.S732S|OGT_uc004ead.2_Silent_p.S490S NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 871 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) TTCCCAATAGTGTACTCTGGC 0.398 NaN 0 0 0 0.001523 0 19 43 P2RY10 27334 broad.mit.edu 37 X 78216602 78216602 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:78216602G>T uc004ede.2 + 4 954 c.585G>T c.(583-585)TTG>TTT p.L195F P2RY10_uc004edf.2_Missense_Mutation_p.L195F NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 195 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CAGTTGCGTTGGTCGGGATGA 0.458 NaN 1 0 1.64113e-05 0.001523 2.89868e-05 22 61 CPXCR1 53336 broad.mit.edu 37 X 88008581 88008581 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:88008581G>T uc004efd.3 + 3 425 c.166G>T c.(166-168)GCA>TCA p.A56S CPXCR1_uc004efc.3_Missense_Mutation_p.A56S NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 56 intracellular zinc ion binding ovary(3) 3 GCCAGGCACAGCAACCTCCCA 0.453 NaN 1 0 8.12818e-05 0.001984 0.000142535 7 28 PCDH11X 27328 broad.mit.edu 37 X 91873589 91873589 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:91873589C>T uc004efk.1 + 7 4539 c.3694C>T c.(3694-3696)CAC>TAC p.H1232Y PCDH11X_uc004efl.1_Missense_Mutation_p.H1222Y|PCDH11X_uc004efo.1_Missense_Mutation_p.H1195Y|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1224Y|PCDH11X_uc004efn.1_Missense_Mutation_p.H1214Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1232 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TACTGCACTTCACCACAGCCC 0.587 NaN 0 0 0 0.00623 0 39 94 PCDH19 57526 broad.mit.edu 37 X 99663576 99663576 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:99663576G>A uc010nmz.2 - 1 1696 c.20C>T c.(19-21)CCG>CTG p.P7L PCDH19_uc004efw.3_Missense_Mutation_p.P7L|PCDH19_uc004efx.3_Missense_Mutation_p.P7L NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 7 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CAGCAGCACCGGCAGCAGGAG 0.682 NaN 0 0 0 0.000248 0 3 5 TCEAL2 140597 broad.mit.edu 37 X 101382355 101382355 + Missense_Mutation SNP A A G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:101382355A>G uc004eip.2 + 3 772 c.553A>G c.(553-555)AAA>GAA p.K185E NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GAGAAAAAGCAAACAGAAATT 0.453 NaN 0 0 0 0.00361 0 49 143 IRS4 8471 broad.mit.edu 37 X 107975913 107975913 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:107975913C>T uc004eoc.2 - 1 3695 c.3662G>A c.(3661-3663)CGG>CAG p.R1221Q NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1221 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TCTTGGCACCCGGCGACTGCG 0.592 NaN 0 0 0 0.00361 0 75 185 NKAP 79576 broad.mit.edu 37 X 119077327 119077327 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:119077327C>G uc004esh.2 - 1 409 c.242G>C c.(241-243)AGA>ACA p.R81T NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 81 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 GGGCCGCTCTCTAGAACGCGA 0.662 NaN 0 0 0 0.004007 0 15 25 GLUD2 2747 broad.mit.edu 37 X 120182792 120182792 + Silent SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:120182792G>T uc004eto.2 + 1 1331 c.1254G>T c.(1252-1254)CTG>CTT p.L418L NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 418 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) AGATCTTCCTGGAGAGAAACA 0.438 NaN 1 0 7.89702e-26 0.00361 1.50743e-25 57 187 DCAF12L1 139170 broad.mit.edu 37 X 125685766 125685766 + Nonsense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:125685766C>A uc004eul.2 - 1 1077 c.826G>T c.(826-828)GAA>TAA p.E276* NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 276 WD 3. skin(3)|ovary(1) 4 GCTCCCAGTTCCTGGTTCTTG 0.637 NaN 1 0 0.00010058 0.001368 0.000175955 11 30 BCORL1 63035 broad.mit.edu 37 X 129148662 129148662 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:129148662G>A uc004evb.1 + 4 2028 c.1914G>A c.(1912-1914)CAG>CAA p.Q638Q BCORL1_uc010nrd.1_Silent_p.Q540Q NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 638 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TGCCGAACCAGCGCAAGACAC 0.612 NaN 0 0 0 0.00632 0 28 65 ZNF280C 55609 broad.mit.edu 37 X 129370577 129370577 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:129370577G>C uc004evm.2 - 7 684 c.530C>G c.(529-531)TCT>TGT p.S177C ZNF280C_uc010nrf.1_Missense_Mutation_p.S177C NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 177 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 TTTAGAAGTAGAAGGATGTTT 0.318 NaN 0 0 0 0.007413 0 19 52 BRS3 680 broad.mit.edu 37 X 135572431 135572431 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:135572431C>G uc004ezv.1 + 2 723 c.574C>G c.(574-576)CGA>GGA p.R192G NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 192 Extracellular (Potential). adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATACACTTTTCGAGATCCCAA 0.383 NaN 0 0 0 0.003755 0 37 54 GPR50 9248 broad.mit.edu 37 X 150349467 150349467 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:150349467C>G uc010ntg.1 + 2 1547 c.1412C>G c.(1411-1413)TCC>TGC p.S471C NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 471 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AAGCCTGCTTCCAGCAACCCC 0.552 NaN 0 0 0 0.00361 0 138 288 GPR50 9248 broad.mit.edu 37 X 150349531 150349531 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:150349531C>A uc010ntg.1 + 2 1611 c.1476C>A c.(1474-1476)TTC>TTA p.F492L NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 492 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTGCCTTCAGTGCTGCCA 0.572 NaN 1 0 4.92795e-40 0.00361 9.50575e-40 87 196 ATP2B3 492 broad.mit.edu 37 X 152818716 152818716 + Missense_Mutation SNP G G T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:152818716G>T uc004fht.1 + 11 2173 c.2047G>T c.(2047-2049)GTG>TTG p.V683L ATP2B3_uc004fhs.1_Missense_Mutation_p.V683L NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 683 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGAGGACCCTGTGCGGCCCGA 0.632 NaN 1 0 0.000219431 0.00245 0.000381145 13 27 SRPK3 26576 broad.mit.edu 37 X 153048313 153048313 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:153048313G>A uc004fil.2 + 6 594 c.562G>A c.(562-564)GTG>ATG p.V188M SRPK3_uc004fik.2_Missense_Mutation_p.V254M|SRPK3_uc010nul.2_Missense_Mutation_p.V146M|SRPK3_uc004fin.2_Missense_Mutation_p.V188M|SRPK3_uc004fim.2_Missense_Mutation_p.V188M NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 188 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CGTGCCCTGCGTGAAGAGCAT 0.642 NaN 0 0 0 0.00245 0 14 20 FLNA 2316 broad.mit.edu 37 X 153578566 153578566 + Missense_Mutation SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:153578566G>A uc004fkk.2 - 45 7415 c.7166C>T c.(7165-7167)GCT>GTT p.A2389V FLNA_uc004fki.2_Missense_Mutation_p.A432V|FLNA_uc011mzn.1_Missense_Mutation_p.A522V|FLNA_uc010nuu.1_Missense_Mutation_p.A2381V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2389 Filamin 22. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GAAGCGCACAGCATACTTATC 0.582 NaN 0 0 0 0.003954 0 23 58 CTAG2 30848 broad.mit.edu 37 X 153880854 153880854 + Silent SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:153880854C>T uc004fmi.1 - 2 374 c.321G>A c.(319-321)AGG>AGA p.R107R CTAG2_uc004fmh.1_Silent_p.R107R NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 107 centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGACAGGATCCTGCGGACCA 0.622 NaN 0 0 0 0.001523 0 18 35 CAMSAP1L1 23271 broad.mit.edu 37 1 200709041 200709062 + Frame_Shift_Del DEL GGGCCAAAATCGCCTGCAATCT GGGCCAAAATCGCCTGCAATCT - TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr1:200709041_200709062delGGGCCAAAATCGCCTGCAATCT uc001gvl.2 + 1 356_377 c.86_107delGGGCCAAAATCGCCTGCAATCT c.(85-108)AGGGCCAAAATCGCCTGCAATCTGfs p.R29fs CAMSAP1L1_uc001gvk.2_Frame_Shift_Del_p.R29fs|CAMSAP1L1_uc001gvm.2_Frame_Shift_Del_p.R29fs NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 29_36 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 GATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTG 0.55 NaN NaN NaN NaN NaN NaN 8 71 --- --- ANKRD36 375248 broad.mit.edu 37 2 97875579 97875580 + Frame_Shift_Ins INS - - A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr2:97875579_97875580insA uc010yva.1 + 56 3581_3582 c.3337_3338insA c.(3337-3339)GAAfs p.E1113fs NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1113 0 TATAGCCAGAGAAAAAAAGGAT 0.317 NaN NaN NaN NaN NaN NaN 4 6 --- --- SAMHD1 25939 broad.mit.edu 37 20 35533895 35533896 + Frame_Shift_Ins INS - - A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr20:35533895_35533896insA uc002xgh.1 - 12 1411_1412 c.1281_1282insT c.(1279-1284)TTTCTGfs p.F427fs SAMHD1_uc010gft.1_RNA NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 427_428 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) AAAATCTCCAGAAAAATGTTAT 0.292 NaN NaN NaN NaN NaN NaN 41 63 --- --- CCNL1 57018 broad.mit.edu 37 3 156877198 156877198 + Frame_Shift_Del DEL A A - TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:156877198delA uc003fbf.2 - 2 973 c.374delT c.(373-375)TTCfs p.F125fs CCNL1_uc003fbd.1_Frame_Shift_Del_p.F125fs|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_5'UTR NM_020307 NP_064703 Q9UK58 CCNL1_HUMAN cyclin L1 125 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding lung(3)|breast(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) GCTTACCTCGAAACTGTGTTT 0.517 NaN NaN NaN NaN NaN NaN 17 50 --- --- ZDHHC19 131540 broad.mit.edu 37 3 195925257 195925257 + Frame_Shift_Del DEL A A - TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr3:195925257delA uc003fwc.2 - 7 953 c.839delT c.(838-840)CTGfs p.L280fs ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_Intron NM_001039617 NP_001034706 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC domain containing 19 280 integral to membrane acyltransferase activity|zinc ion binding ovary(3) 3 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) TGGAGGGTGCAGATTCGGCAT 0.652 NaN NaN NaN NaN NaN NaN 12 58 --- --- ATP10D 57205 broad.mit.edu 37 4 47538490 47538491 + Frame_Shift_Ins INS - - T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr4:47538490_47538491insT uc003gxk.1 + 8 1216_1217 c.1052_1053insT c.(1051-1053)CATfs p.H351fs ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Frame_Shift_Ins_p.H351fs NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 351 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GAAAAGATGCATTTTTTCAATG 0.342 NaN NaN NaN NaN NaN NaN 112 80 --- --- EYA4 2070 broad.mit.edu 37 6 133783839 133783839 + Frame_Shift_Del DEL A A - TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr6:133783839delA uc003qec.3 + 9 1119 c.661delA c.(661-663)AGTfs p.S221fs EYA4_uc011ecq.1_Frame_Shift_Del_p.S167fs|EYA4_uc011ecr.1_Frame_Shift_Del_p.S167fs|EYA4_uc003qed.3_Frame_Shift_Del_p.S221fs|EYA4_uc003qee.3_Frame_Shift_Del_p.S198fs|EYA4_uc011ecs.1_Frame_Shift_Del_p.S221fs|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 221 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TGGCTGCCTCAGTTACAGCCC 0.473 NaN NaN NaN NaN NaN NaN 23 37 --- --- GLIS3 169792 broad.mit.edu 37 9 4117765 4117766 + Splice_Site INS - - A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chr9:4117765_4117766insA uc003zhw.1 - 3 1439 c.1245_splice c.e3+1 p.T415_splice GLIS3_uc003zhx.1_Splice_Site_p.T570_splice|GLIS3_uc003zhy.1_Intron|GLIS3_uc003zhz.1_Intron NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTCGGAAACTCACCGTACACTT 0.559 NaN NaN NaN NaN NaN NaN 70 76 --- --- GLUD2 2747 broad.mit.edu 37 X 120182413 120182413 + Frame_Shift_Del DEL T T - TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82f98ff9-7161-45c3-8107-033b47e25f21 faac4243-dcb7-4fe7-974f-7c1c97c101b3 g.chrX:120182413delT uc004eto.2 + 1 952 c.875delT c.(874-876)ATTfs p.I292fs NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 292 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TACATGAGCATTTTAGGAATG 0.438 NaN NaN NaN NaN NaN NaN 36 108 --- ---